ClinVar Miner

Submissions for variant NM_006258.4(PRKG1):c.63G>A (p.Arg21=)

gnomAD frequency: 0.00007  dbSNP: rs143805509
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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 RCV002315175 SCV000739574 likely benign Familial thoracic aortic aneurysm and aortic dissection 2016-04-08 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000655079 SCV000777004 likely benign Aortic aneurysm, familial thoracic 8 2025-01-08 criteria provided, single submitter clinical testing
GeneDx RCV001551836 SCV001772425 likely benign not provided 2020-01-20 criteria provided, single submitter clinical testing

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