ClinVar Miner

Submissions for variant NM_002474.3(MYH11):c.1566C>T (p.Ile522=)

gnomAD frequency: 0.00001  dbSNP: rs541905355
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000442611 SCV000520035 likely benign not specified 2015-10-07 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 RCV001464401 SCV001668369 likely benign Aortic aneurysm, familial thoracic 4 2024-06-30 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001524330 SCV001734134 likely benign Familial thoracic aortic aneurysm and aortic dissection 2020-06-29 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV001524330 SCV004823654 likely benign Familial thoracic aortic aneurysm and aortic dissection 2023-11-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV001524330 SCV005455968 likely benign Familial thoracic aortic aneurysm and aortic dissection 2024-06-30 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.

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