ClinVar Miner

Submissions for variant NM_016203.4(PRKAG2):c.585T>A (p.Ser195=)

gnomAD frequency: 0.00001  dbSNP: rs781522393
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001178447 SCV001342902 likely benign Cardiomyopathy 2019-02-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001421523 SCV001624048 likely benign Lethal congenital glycogen storage disease of heart 2023-11-13 criteria provided, single submitter clinical testing
GeneDx RCV001638049 SCV001852240 likely benign not provided 2019-02-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV002356831 SCV002652654 likely benign Cardiovascular phenotype 2021-07-15 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.
All of Us Research Program, National Institutes of Health RCV004006480 SCV004842272 likely benign Hypertrophic cardiomyopathy 2023-12-07 criteria provided, single submitter clinical testing

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