ClinVar Miner

Submissions for variant NM_016203.4(PRKAG2):c.1254T>C (p.Pro418=)

gnomAD frequency: 0.00001  dbSNP: rs753059650
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000828037 SCV000969713 likely benign not provided 2018-05-24 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV001081016 SCV001081289 likely benign Lethal congenital glycogen storage disease of heart 2023-10-23 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001177450 SCV001341673 likely benign Cardiomyopathy 2019-01-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV002415957 SCV002681698 likely benign Cardiovascular phenotype 2021-11-02 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.
All of Us Research Program, National Institutes of Health RCV004002879 SCV004842223 likely benign Hypertrophic cardiomyopathy 2023-10-27 criteria provided, single submitter clinical testing

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