ClinVar Miner

Submissions for variant NM_002474.3(MYH11):c.5313C>T (p.Asn1771=)

gnomAD frequency: 0.00006  dbSNP: rs190675029
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000182479 SCV000234824 benign not specified 2014-09-10 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000553719 SCV000641072 likely benign Aortic aneurysm, familial thoracic 4 2024-08-28 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001178615 SCV001343102 likely benign Familial thoracic aortic aneurysm and aortic dissection 2018-10-21 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000182479 SCV001478674 benign not specified 2021-01-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV001178615 SCV002647239 likely benign Familial thoracic aortic aneurysm and aortic dissection 2019-06-03 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.
All of Us Research Program, National Institutes of Health RCV001178615 SCV004815562 likely benign Familial thoracic aortic aneurysm and aortic dissection 2024-01-11 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003907636 SCV004718394 likely benign MYH11-related disorder 2019-04-02 no assertion criteria provided 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).

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