ClinVar Miner

Submissions for variant NM_006258.4(PRKG1):c.711C>T (p.Phe237=)

dbSNP: rs1029991615
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001495475 SCV001700157 likely benign Aortic aneurysm, familial thoracic 8 2022-12-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV004037352 SCV005025169 likely benign Familial thoracic aortic aneurysm and aortic dissection 2023-09-18 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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