ClinVar Miner

Submissions for variant NM_002474.3(MYH11):c.6G>A (p.Ala2=)

gnomAD frequency: 0.00018  dbSNP: rs762011909
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001704776 SCV000729152 likely benign not provided 2019-08-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV001170348 SCV000739216 likely benign Familial thoracic aortic aneurysm and aortic dissection 2016-08-09 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.
Invitae RCV000862456 SCV001002967 benign Aortic aneurysm, familial thoracic 4 2024-01-01 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001170348 SCV001332922 benign Familial thoracic aortic aneurysm and aortic dissection 2018-09-17 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001170348 SCV001351761 benign Familial thoracic aortic aneurysm and aortic dissection 2019-03-11 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003965283 SCV004780053 likely benign MYH11-related disorder 2024-02-21 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
All of Us Research Program, National Institutes of Health RCV001170348 SCV004816909 benign Familial thoracic aortic aneurysm and aortic dissection 2023-12-01 criteria provided, single submitter clinical testing

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