ClinVar Miner

Submissions for variant NM_016203.4(PRKAG2):c.531G>T (p.Leu177=)

gnomAD frequency: 0.00001  dbSNP: rs373000537
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000038944 SCV000062622 likely benign not specified 2008-01-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000229684 SCV000290211 benign Lethal congenital glycogen storage disease of heart 2025-01-22 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000769252 SCV000900628 benign Cardiomyopathy 2017-09-19 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000769252 SCV000904654 likely benign Cardiomyopathy 2018-03-08 criteria provided, single submitter clinical testing
GeneDx RCV001618234 SCV001845016 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV002345303 SCV002643153 benign Cardiovascular phenotype 2022-01-13 criteria provided, single submitter clinical testing This alteration is classified as 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 RCV003996422 SCV004842281 likely benign Hypertrophic cardiomyopathy 2024-01-11 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV000038944 SCV001924194 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001618234 SCV001955404 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001618234 SCV001968578 likely benign not provided no assertion criteria provided clinical testing

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