ClinVar Miner

Submissions for variant NM_002474.3(MYH11):c.1764G>A (p.Ala588=)

gnomAD frequency: 0.00006  dbSNP: rs375133214
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000659904 SCV000781808 likely benign Connective tissue disorder 2016-11-01 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000773633 SCV000907327 likely benign Familial thoracic aortic aneurysm and aortic dissection 2018-08-12 criteria provided, single submitter clinical testing
GeneDx RCV001731853 SCV001982658 likely benign not provided 2021-09-24 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 26582918)
Labcorp Genetics (formerly Invitae), Labcorp RCV002066965 SCV002435700 likely benign Aortic aneurysm, familial thoracic 4 2025-01-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV000773633 SCV002713347 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.
All of Us Research Program, National Institutes of Health RCV000773633 SCV004823646 likely benign Familial thoracic aortic aneurysm and aortic dissection 2023-11-02 criteria provided, single submitter clinical testing

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