ClinVar Miner

Submissions for variant NM_006258.4(PRKG1):c.951A>T (p.Thr317=)

gnomAD frequency: 0.00003  dbSNP: rs770604607
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000680603 SCV000808031 likely benign Connective tissue disorder 2018-06-01 criteria provided, single submitter clinical testing
Invitae RCV003741214 SCV001006201 likely benign Aortic aneurysm, familial thoracic 8 2023-08-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV002369812 SCV002685463 likely benign Familial thoracic aortic aneurysm and aortic dissection 2022-09-05 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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