ClinVar Miner

Submissions for variant NM_006258.4(PRKG1):c.735C>G (p.Leu245=)

gnomAD frequency: 0.00002  dbSNP: rs761346689
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001434543 SCV001637353 likely benign Aortic aneurysm, familial thoracic 8 2024-07-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV002382088 SCV002670415 likely benign Familial thoracic aortic aneurysm and aortic dissection 2022-01-02 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV005056684 SCV005726801 likely benign not specified 2024-11-11 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003895606 SCV004713334 likely benign PRKG1-related disorder 2021-07-01 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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