ClinVar Miner

Submissions for variant NM_016203.4(PRKAG2):c.1260C>T (p.Phe420=)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002412585 SCV002675336 likely benign Cardiovascular phenotype 2021-01-28 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV003099913 SCV003504064 likely benign Lethal congenital glycogen storage disease of heart 2022-05-01 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004808297 SCV005429702 likely benign Hypertrophic cardiomyopathy 2024-04-16 criteria provided, single submitter clinical testing

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