ClinVar Miner

Submissions for variant NM_002474.3(MYH11):c.2082G>A (p.Leu694=)

gnomAD frequency: 0.00002  dbSNP: rs370934806
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001799485 SCV002042926 likely benign Familial thoracic aortic aneurysm and aortic dissection 2020-04-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV001799485 SCV002726839 likely benign Familial thoracic aortic aneurysm and aortic dissection 2022-09-26 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Fulgent Genetics, Fulgent Genetics RCV002503289 SCV002810699 likely benign Aortic aneurysm, familial thoracic 4; Visceral myopathy 2; Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 2021-09-13 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003772201 SCV004622561 likely benign Aortic aneurysm, familial thoracic 4 2024-11-11 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV001799485 SCV004829853 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2023-08-08 criteria provided, single submitter clinical testing This variant is located in the MYH11 protein. To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with MYH11-related disorders in the literature. This variant has been identified in 5/251036 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

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