ClinVar Miner

Submissions for variant NM_002474.3(MYH11):c.5595C>T (p.Ala1865=)

gnomAD frequency: 0.00004  dbSNP: rs760286479
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000777863 SCV000320338 likely benign Familial thoracic aortic aneurysm and aortic dissection 2015-09-15 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.
GeneDx RCV000421100 SCV000513781 benign not specified 2015-06-23 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.
Color Diagnostics, LLC DBA Color Health RCV000777863 SCV000913868 likely benign Familial thoracic aortic aneurysm and aortic dissection 2018-09-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001460334 SCV001664201 likely benign Aortic aneurysm, familial thoracic 4 2025-01-21 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV000777863 SCV004815509 likely benign Familial thoracic aortic aneurysm and aortic dissection 2023-11-02 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003920018 SCV004735198 likely benign MYH11-related disorder 2023-06-26 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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