ClinVar Miner

Submissions for variant NM_001613.4(ACTA2):c.78C>T (p.Asp26=)

gnomAD frequency: 0.00010  dbSNP: rs141538225
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000251250 SCV000317671 likely benign Familial thoracic aortic aneurysm and aortic dissection 2023-04-11 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.
Invitae RCV000540331 SCV000646320 benign Aortic aneurysm, familial thoracic 6 2023-12-09 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000251250 SCV001341542 likely benign Familial thoracic aortic aneurysm and aortic dissection 2018-12-05 criteria provided, single submitter clinical testing

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