ClinVar Miner

Submissions for variant NM_006258.4(PRKG1):c.867G>A (p.Pro289=)

gnomAD frequency: 0.00004  dbSNP: rs150189667
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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 RCV000936019 SCV001081778 likely benign Aortic aneurysm, familial thoracic 8 2023-03-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV003169393 SCV003912021 likely benign Familial thoracic aortic aneurysm and aortic dissection 2023-02-23 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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