The content on this website is current as of 28 February 2022. On that date, ClinVar had 1,943,225 submissions on 1,194,065 variants. When referencing data from this website, please cite the 2018 Human Mutation article "ClinVar Miner: Demonstrating utility of a Webbased tool for viewing and filtering ClinVar data" .

ClinVar Miner was developed by Alex Henrie in the Eilbeck Lab with support from the NHGRI's ClinGen Resources (grants U41 HG006834-01A1 to Heidi Rehm and U01 HG007437-01 to Jonathan Berg). Use of the NCBI logo represents use of NCBI data but does not constitute an approval or endorsement of this application. Source code is available on GitHub under the GNU General Public License.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.

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ClinVar Miner

Hypertension, or high blood pressure, means that the force of blood against the artery walls is higher than recommended levels. People with a family history of hypertension are more likely to develop the condition.

In adults, typical blood pressure measures 120/80 millimeters of mercury. Almost half of all adults in the United States have high blood pressure, which puts them at risk of cardiovascular disease, including stroke and heart attack.

Certain factors increase an individuals risk of developing hypertension, including age, weight, diet, and genetics.

Hypertension is a widespread problem affecting 47% of adults in the U.S. a figure that amounts to 116 million people. The condition affects 50% of males and 44% of females. However, only 1 in 4 have their hypertension under control. In 2019, the condition caused or contributed to more than 500,000 deaths.

Keep reading to learn more about hypertension, including the role genetics play in its development and other potential risk factors.

If an individual has family members with hypertension, they have an increased risk of developing the condition.

Hypertension can run in families because of shared genes, environments, and lifestyle habits. The risk increases even more if an individual with a genetic link to hypertension also engages in unhealthy lifestyle choices.

According to some research, when biological parents and grandparents have hypertension, there is a risk of the same condition occurring in their children and grandchildren. Specifically, the biggest risk is when individuals in a family develop hypertension before the age of 55 years. And this is independent of lifestyle factors, such as physical activity, alcohol intake, and a diet high in salt.

Research in twins and families has suggested that up to 3050% of the variance in blood pressure readings could be due to family history. It seems that genes play a role in hypertension, and family members can pass these genetic traits from one generation to the next.

However, genes are only part of the reason for heredity hypertension. Another factor is that people who live in common environments may eat the same non-nutritious diet or share habits such as smoking or drinking excessive alcohol. Along with genetics, these factors increase the likelihood of developing hypertension.

If an individual has a family history of hypertension, they should understand the risk factors for the condition and reduce them wherever possible.

Doctors refer to risk factors that someone can change as modifiable. An individual can work with their doctor to lower these risk factors as much as possible. This could involve maintaining a moderate weight, eating a nutritious diet, quitting cigarette smoking if applicable, and drinking less alcohol. Research has found that adhering to a healthy lifestyle has associations with lower blood pressure, regardless of underlying genetic risk.

Besides taking these steps, a doctor may suggest regular blood pressure monitoring so they can assess and address any changes in blood pressure over time.

Hypertension can occur in people for various reasons. It is important to note that in about 95% of cases, the cause of the condition is unknown.

Health experts do not fully understand what causes primary hypertension, which they also refer to as essential hypertension. In this type, people can develop high blood pressure over time. Additionally, there is no underlying cause for this increase. In contrast, secondary hypertension can result from other disorders that increase blood pressure.

Essential hypertension is complex many environmental and genetic factors contribute to its development. There are many genetic variations in humans that have links to essential hypertension. Examples might include genes that play a role in regulating the following:

This plays a role in regulating blood pressure in the body. Scientists believe that genetic changes in a person might impair their bodys ability to control blood pressure, and hypertension can occur.

Any changes to the genes that contribute to the typical functioning of the lining can lead to a difference in blood vessel structure and impair its abilities. Blood vessels might become narrower, which can result in high blood pressure.

Environmental factors can also contribute to the development of hypertension in some people.

Learn more about the causes of secondary hypertension.

Besides a family history of hypertension, various risk factors can increase an individuals likelihood of developing the condition.

The lifestyle risk factors for hypertension include:

Other risk factors for hypertension include:

A doctor will likely recommend lifestyle changes and medications if they diagnose someone with hypertension.

Lifestyle changes include:

An individual may also benefit from antihypertensive medications. They may use a single medication or combine two or more to control their blood pressure.

Depending on the individuals overall medical health, a doctor may prescribe one or more of the following:

Learn more about blood pressure medications.

Hypertension, or high blood pressure, is a common condition that can lead to serious health complications without treatment.

Experts believe there is a link between a family history of hypertension and the condition occurring. However, many factors contribute to the risk, including lifestyle, age, race or ethnicity, and other health conditions.

Making healthy lifestyle choices, such as maintaining a moderate weight, eating a nutritious diet, and getting regular exercise, can help reduce the risk of developing hypertension. If lifestyle changes are not enough to control blood pressure, a doctor may prescribe medication.

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Genetics and hypertension: What is the link? - Medical News Today

It has been almost 44 years years since the first in vitro fertilisation (IVF) procedure was successfully performed in 1978 in Lancashire, England. Since then, more than 8 million babies have been born worldwide to assisted reproductive technologies, such as IVF.

But despite its increasing use, the success rate of IVF still remains relatively low, at around 30%. There may be a number of reasons for this. In our recent paper, we argue that this low rate is partially due to the many unfavourable genetic changes that we carry in our DNA.

Genetic changes happen when mutations in our genes replace, insert or delete sections of DNA. More of these mutations are occurring now in humans because were having babies at a later age. As we get older, more mutations are likely to accumulate meaning older parents are more likely to pass on genetic mutations to their children than younger parents. Mutations may also be caused by environmental factors (such as ultraviolet radiation in sunlight), or lifestyle choices (for example, smoking).

All of the genetic changes we inherit or develop throughout our lifetime constitute whats known as our genetic load. This genetic load can impact our ability to reproduce. And as our study suggests, this may also affect our ability to reproduce via methods such as IVF.

Genetic mutations make evolution possible. They provide the new material for natural selection that allows species to adapt and evolve. While most of these mutations have no effect, some are slightly harmful. Such harmful mutations may cause diabetes or breast cancer, for example or they may disrupt the healthy development of an embryo.

Human DNA carries more than 1,000 harmful mutations, most of which happened many generations ago. Yet, even though they are harmful, they have not (yet) been removed, because natural selection is a very slow process.

In addition to the large number of old mutations, new mutations also enter the population every generation. On average, every person acquires approximately 70 new mutations during their lifetime. But since some of these mutations are harmful, they need to be removed by natural selection, so that they arent passed on to future offspring. One of the most important times this happens is during natural conception.

When a child is conceived naturally, the body has many mechanisms in place to remove some of these harmful mutations.

For example, the female reproductive system is designed in such a way that only the fittest sperm cells can reach the egg for fertilisation. Although evidence is scarce, animal studies suggest that the sperm that reach the fertilisation site have a better DNA quality and potentially fewer mutations.

Mature eggs also undergo a sort of quality check during fertilisation. This too helps purge some of the genetic load. The implantation stage (where a fertilised embryo implants itself in the mothers womb) is also important, as many embryos with severe genetic abnormalities tend to be lost naturally during pregnancies.

However, IVF bypasses some of these natural mechanisms. During IVF, multiple eggs are harvested from the womans ovaries and fertilised with sperm in a laboratory. After they have been fertilised, the embryos are then returned to the womb. This reduces the opportunity for natural selection, which may therefore make IVF less efficient in reducing the genetic load. This could potentially increase the likelihood that harmful variants of genes may be passed onto the next generation.

So, the genetic load has two big implications for human reproduction. First, the genetic load of parents affects their ability to successfully reproduce. This is true both for natural conception, as well as for IVF. Second, by relaxing natural selection, IVF may let more mutations slip through the net. As such, it could slowly increase our genetic load in future generation. But there may be a solution.

Fertility rates have suffered an unprecedented decline in recent decades. In fact, sperm count has fallen by about 50 to 60% between 1973 and 2011. Its unclear why this is, but if this trend continues it could mean more people turn to IVF to conceive.

Yet we still know surprisingly little about human reproduction and the selective processes operating during natural conception. We must understand natural conception first if we want to improve assisted reproduction methods, including IVF. But recent technological advances in assisted reproductive technologies mean that we may soon be better able to counteract some of the genetic load in humans. For example selection at sperm level in the IVF process has been shown to improve the offspring fitness in animal models. In particular, selection of longer-lived sperm in zebrafish results in healthier offspring that live longer.

Advances in genomic technologies also have the potential to affect human evolution. Already, genomic data is effectively being used in clinical care, and the genomic bases of thousands of human diseases are now known. Furthermore, changes to our environment and our lifestyle are affecting the genetic load and human health. Most often, these changes have a negative effect, which makes these technological advances ever more important. As new advances are made, it will also be important to consider the potential consequences of using assisted reproductive technologies if these become the norm.

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IVF: heres how genetics may be affecting its success new insights - The Conversation Indonesia

June is National Mens Health Month and the Greater Chattanooga Colon Cancer Foundation (GCCCF) wants to remind everyone that regular colonoscopy screening begins at age 45 unless you have symptoms, a family history, or a genetic risk for colon cancer.

According to the NIH, 5-10% of colorectal cancers are hereditary, and Hamilton County is home to several cancer genetic counselors who help individuals and families learn about their risk factors for developing cancer. Additionally, the Genetic Information Nondiscrimination Act (GINA) of 2008 protects Americans from discrimination based on their genetic information in both health insurance (Title I) and employment (Title II).

GCCCF Board member, Madison Thomason, is a Licensed, Certified Genetic Counselor at CHI Memorial Rees Skillern Cancer Institute. She specializes in oncology and gathers individual and family medical histories to assess the likelihood of a hereditary link and to determine if genetic testing is appropriate

Genetic testing is done by saliva or blood, if someone is deemed appropriate for testing, so not very invasive, said Thomason. Once we have the results, we interpret them in the context of an individuals personal and family histories and determine a plan which could include earlier screenings and/or more frequent screenings. Someone with a genetic risk for colon cancer might start their colonoscopies before age 45, the starting age for someone at average risk. They may also need to have them more often, perhaps as frequently as every 1 or 2 years. In some cases, a preventative surgery or an oral medication may be recommended to lower the chance for cancer. These can be life-saving measures.

Genetic counseling can help people better understand their risk for colon cancer and empower them to take steps to either prevent colon cancer altogether or catch it at an early stage.

The GCCCF works with community partners to raise awareness, provide education and support, and accelerate community understanding that colon and rectal cancers are preventable, treatable, and beatable. To learn more visit http://www.gcccf.org

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Genetics And Colorectal Cancer: When Is The Right Time For A Colonoscopy? - Chattanooga Pulse

On National DNA Day (April 25) this year, NHGRI released a fully revamped version of its popular talking glossary, which included a new name: the Talking Glossary of Genomic and Genetic Terms. First launched in 1998, the talking glossary is one of the most visited sites on genome.gov. Some of the talking glossarys terms receive over 70,000 views per month. This resource is filled with definitions, audio recordings, and illustrations for hundreds of terms. It is one of the premier educational resources offered by NHGRI, and it aims to help users better understand the basics of genomics and genetics.

While reformatted and expanded a few times over the years, the glossarys content had not been comprehensively updated and refined since its creation. The talking glossary targets students, educators, policymakers, healthcare professionals, and the public. Users of the glossary can obtain concise, up-to-date, and accurate definitions, which are presented in a clear, accessible language and a user-friendly format. Terms are defined in both written and oral formats, including a Spanish translation.

To date, the new Talking Glossary of Genomic and Genetic Terms has 222 terms, of which 142 have new accompanying illustrations and 15 have new associated animations. The new color illustrations strive to be clear and concise in a fashion that best conveys the term. Animations are included when it helps the understanding of the term. All of the animations and graphics are readily downloadable for use in other contexts.

The redesigned layout of the talking glossary on genome.gov is based on analytical data and user experience, with the aim of improving performance and reducing user navigation steps. In addition to the ability to browse terms, there is a quick search feature. To help the user better engage with the content, related terms are suggested with each term, and popular terms are featured prominently throughout the resource. The new layout is also designed for cross-browser and cross-device usage.

This new and improved educational resource now features higher sound quality audio recordings from 37 NHGRI experts who served as narrators. In addition to providing the pronunciation and definition of each term, the narrator in each case provides a personal commentary (or riff) about the term. As expected, the glossary now contains more modern terms that represent recent advances in genomics. In addition, there are several relevant terms related to social science. In developing the updated talking glossary, an effort was made to eliminate stigmatizing language from any of the definitions.

Because the talking glossary is one of the most popular educational resources on genome.gov, NHGRI is committed to keeping it current. Additional terms, illustrations, and animations will be added in the coming months.

The NHGRI Talking Glossary of Genomic and Genetic Terms is only one of a collection of remote-learning resources to help make genomics and genetics more accessible and understandable to a wide array of audiences. For additional materials, see all of NHGRIs educational resources.

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NHGRI releases new and improved Talking Glossary of Genomic and Genetic Terms - National Human Genome Research Institute

A toddler with a genetic condition so rare that only two other kids in the United Kingdom have been diagnosed with it is having her hair shaved off for her own safety.

Sydney Miller, 2, is described by her mom as just like a newborn baby due to Primrose syndrome, which impacts only 50 children around the world.

Mom-of-five Stacie Miller, 36, said Sydney showed no signs of being any different from other babies when she was born March 18, 2020, just before the first pandemic lockdown.

The first sign that something was up was that Sydney could not open one of her eyes, prompting fears she may have been born without an eyeball.

She was diagnosed with Horner syndrome, where one eye is blue and one is brown, and an indicator of an underlying condition, which sparked a string of appointments as doctors tried to work out what was wrong.

A doctor who treated Sydney had been to a seminar on Primrose syndrome, which is so rare that even health care professionals have to read about it on Google.

Sydney is non-verbal and her parents do not know if she will ever talk.

In January, she was given two hearing aids because her inner ear has not fully developed, meaning she has hearing loss.

She cannot crawl or pull herself up, so mom Stacie has to carry her around, but she only weighs 20 pounds, as much as a 6-month-old baby. Stacie said children with the syndrome bear a physical resemblance to each other in a way similar to Down syndrome.

Stacie and husband Stuart, 47, are self-employed and run a wedding car business in Dunbar, East Lothian, Scotland.

Sydney is now starting to attend an additional-needs nursery where she has an occupational therapist and a physiotherapist on-site and health care workers around.

Stacie said the family is unsure what the future holds due to the rarity of the illness, which was initially feared to be cancer.

Stacie said: "When Sydney was born she didn't look any different to any of my other children.

"As the weeks went on she wouldn't open one of her eyes and it was thought it might be a blocked tear duct.

"Then they thought she might be missing an eyeball.

"She was diagnosed with Horner Syndrome which means one eye is blue and one is brown and it makes her sweat on one side of her body, sometimes she will be red and white.

"She was sent for an MRI scan which ruled out neuroblastama, then they started doing genetic testing.

"A genetics doctor who had seen her had been at a seminar on Primrose Syndrome, and he said before the tests came back that he thought that was what it was.

"It is very very rare, there are only 50 children with it worldwide."

Due to a pituitary cyst, Sydney may need hormone therapy when she gets older.

Stacie added: "She is non-verbal and we don't know if she will be able to talk.

"She can't crawl and she can't stand.

"There is so little research into Primrose Syndrome because it is such a rare illness, the main characteristic is muscle wastage and scoliosis and autism."

The couple realized Sydney's hair was posing a danger to the child when Stacie took a photo of her and realized there were bald patches on her head.

Stacie began to notice Sydney was pulling strands of hair from her scalp, which later came out in clumps.

She then began chewing it and it became entangled in the feeding button she has in her tummy.

Her hair will soon be shaved off to stop the risk of choking, amid hopes she will grow out of the desire to pull it out - described as "looking for feedback," which also includes high-pitched screaming and banging her heels until they are bruised.

Sydney has an unusually high pain threshold, and when her full set of teeth emerged at 6 months old, she wasn't bothered by teething.

However, she was going through a pacifier a day as she couldn't stop munching on them, and her parents feared they posed a choking risk.

Her full diagnosis is of Primrose syndrome, Horners syndrome, Harlequin syndrome, partial agenisis of the corpus collosum (brain undeveloped before birth), pituitary cyst, macrocephaly (abnormally large head), bilateral hearing loss mild/moderate, global development delay, and non-verbal and non-mobile.

Sydney requires gastrostomy, or G-button feeding.

Stacie said: "She is really happy, she never cries unless she is really unwell.

"When she smiles it lights up the room.

"It is hard to predict because we don't know what to expect.

"All the health professionals have had to Google Primrose Syndrome so we are very limited with what we actually know, it was only discovered in the 80s."

Sydney was treated at the Edinburgh Sick Kids Hospital, and will start nursery school when she is 3.

Stacie said: "Covid was really tough as only one parent was allowed in hospital and I was trying to feed back to Sydney's dad what I'd been told."

She said the family includes Sydney in all their activities, and will be taking her to Turkey on vacation in July.

She has been to the cinema and to music festivals, along with siblings Carson, 7, Pree, 12, Bradley, 14, and Mackenzie, 15.

They are looking forward to being able to move to a bigger house, as the three-bed home where they live is cramped with Sydney's equipment and has 21 steps in front.

Stacie said: "If she had had a better-known condition it would have been easier.

"Nobody knows day to day what her needs will be.

"She's very small for a child her age and she curls up, she's like a newborn baby."

The family is fundraising for another toddler, Flora Gentleman, 3, who needs cancer treatment abroad.

Stacie said: "Everybody is so interested in Sydney, she's got so many followers on Facebook.

"I've set up a Facebook just for her so people can keep up to date with her condition and treatments."

This story was provided to Newsweek by Zenger News.

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Toddler Has Genetic Condition So Rare That Doctors Had to Google It - Newsweek

BOSTON and LAUSANNE, Switzerland, June 1, 2022 /PRNewswire/ -- SOPHiA GENETICS (Nasdaq: SOPH), a leader in data-driven medicine, today announced three abstracts accepted for poster presentation and one for online publication at the 2022 American Society of Clinical Oncology (ASCO) Annual Meeting taking place June 3-7 in Chicago. SOPHiA GENETICS and GE Healthcare will also be hosting an Innovation Symposium on Monday, June 6th from 6:30 8:00 pm to present how the companies are working together to deliver on the promise of integrated cancer medicine by bringing global insights across multiple diagnostic modalities to clinical and biopharma customers.

"These high-impact ASCO contributions from SOPHiA GENETICS and collaborators demonstrate how our multimodal technology and solutions help drive novel insights and enhance oncology discoveries," said Dr. Philippe Menu, Chief Medical Officer at SOPHiA GENETICS. "By utilizing our data-driven medicine approach and by applying our AI and machine learning algorithms to real-world multimodal data sets, SOPHiA GENETICS has the potential to help inform treatment decisions at the individual patient level for cancer patients globally. I am really excited to attend ASCO to share how our mission to democratize data-driven medicine is helping transform cancer care."

An overview of the four accepted SOPHiA GENETICS abstracts at ASCO 2022 are included below. The full abstracts will be published in the Meeting Proceedings, an online supplement of the Journal of Clinical Oncology.

About SOPHiA GENETICSSOPHiA GENETICS (Nasdaq: SOPH) is a health care technology company dedicated to establishing the practice of data-driven medicine as the standard of care and for life sciences research. It is the creator of the SOPHiA DDM Platform, a cloud-based SaaS platform capable of analyzing data and generating insights from complex multimodal data sets and different diagnostic modalities. The SOPHiA DDM Platform and related solutions, products and services are currently used by more than 790 hospital, laboratory, and biopharma institutions globally. For more information, visit SOPHiAGENETICS.COM, or connect on Twitter, LinkedIn and Instagram. Where others see data, we see answers.

SOPHiA GENETICS products are for Research Use Only and not for use in diagnostic procedures, unless specified otherwise. The information in this press release is about products that may or may not be available in different countries and, if applicable, may or may not have received approval or market clearance by a governmental regulatory body for different indications for use. Please contact [emailprotected]to obtain the appropriate product information for your country of residence.

SOPHiA GENETICS Forward-Looking Statements:This press release contains statements that constitute forward-looking statements. All statements other than statements of historical facts contained in this press release, including statements regarding our future results of operations and financial position, business strategy, products and technology, as well as plans and objectives of management for future operations, are forward-looking statements. Forward-looking statements are based on our management's beliefs and assumptions and on information currently available to our management. Such statements are subject to risks and uncertainties, and actual results may differ materially from those expressed or implied in the forward-looking statements due to various factors, including those described in our filings with the U.S. Securities and Exchange Commission. No assurance can be given that such future results will be achieved. Such forward-looking statements contained in this press release speak only as of the date hereof . We expressly disclaim any obligation or undertaking to update these forward-looking statements contained in this press release to reflect any change in our expectations or any change in events, conditions, or circumstances on which such statements are based, unless required to do so by applicable law. No representations or warranties (expressed or implied) are made about the accuracy of any such forward-looking statements.

SOURCE SOPHiA GENETICS

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SOPHiA GENETICS Announces Three Poster Presentations and One Online Publication Accepted at the 2022 American Society of Clinical Oncology Annual...