ClinVar Miner

Submissions for variant NM_006258.4(PRKG1):c.2049T>C (p.Asp683=)

gnomAD frequency: 0.00004  dbSNP: rs771700923
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000506865 SCV000604924 likely benign not specified 2017-04-27 criteria provided, single submitter clinical testing
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000680607 SCV000808036 likely benign Connective tissue disorder 2018-06-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000863803 SCV001004519 likely benign Aortic aneurysm, familial thoracic 8 2023-12-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV002420284 SCV002728166 likely benign Familial thoracic aortic aneurysm and aortic dissection 2018-11-13 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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