ClinVar Miner

Submissions for variant NM_001613.4(ACTA2):c.648G>A (p.Glu216=)

gnomAD frequency: 0.00003  dbSNP: rs775575485
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001408990 SCV001611000 likely benign Aortic aneurysm, familial thoracic 6 2023-10-13 criteria provided, single submitter clinical testing
GeneDx RCV001675989 SCV001892603 likely benign not provided 2019-04-17 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002493965 SCV002796003 likely benign Aortic aneurysm, familial thoracic 6; Multisystemic smooth muscle dysfunction syndrome; Moyamoya disease 5 2021-09-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV003170038 SCV003913096 likely benign Familial thoracic aortic aneurysm and aortic dissection 2023-02-20 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 RCV003170038 SCV004840630 likely benign Familial thoracic aortic aneurysm and aortic dissection 2024-01-11 criteria provided, single submitter clinical testing

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