ClinVar Miner

Submissions for variant NM_016203.4(PRKAG2):c.1371A>T (p.Ile457=)

gnomAD frequency: 0.00001  dbSNP: rs755421350
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001471993 SCV001676118 likely benign Lethal congenital glycogen storage disease of heart 2022-03-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV002382128 SCV002697640 likely benign Cardiovascular phenotype 2021-10-12 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 RCV004003271 SCV004834967 likely benign Hypertrophic cardiomyopathy 2024-02-05 criteria provided, single submitter clinical testing

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