ClinVar Miner

Submissions for variant NM_016203.4(PRKAG2):c.1452G>A (p.Glu484=)

gnomAD frequency: 0.00016  dbSNP: rs768299371
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Total submissions: 6
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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 RCV000215548 SCV000270767 likely benign not specified 2015-06-26 criteria provided, single submitter clinical testing p.Glu484Glu in exon 14 of PRKAG2: This variant is not expected to have clinical significance because it does not alter an amino acid residue. It has been identi fied in 5/6614 Finnish chromosomes by the Exome Aggregation Consortium (ExAC, ht tp://exac.broadinstitute.org; dbSNP rs768299371).
GeneDx RCV000215548 SCV000728889 likely benign not specified 2017-12-19 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.
Color Diagnostics, LLC DBA Color Health RCV000771955 SCV000904909 likely benign Cardiomyopathy 2018-10-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000866432 SCV001007522 likely benign Lethal congenital glycogen storage disease of heart 2024-10-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV003165531 SCV003902568 likely benign Cardiovascular phenotype 2022-11-19 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 RCV003997712 SCV004842210 likely benign Hypertrophic cardiomyopathy 2024-02-05 criteria provided, single submitter clinical testing

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