ClinVar Miner

Submissions for variant NM_016203.4(PRKAG2):c.897C>T (p.Asn299=)

gnomAD frequency: 0.00001  dbSNP: rs201876556
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Total submissions: 5
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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 RCV000038959 SCV000062637 likely benign not specified 2015-04-15 criteria provided, single submitter clinical testing p.Asn299Asn in exon 7 of PRKAG2: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue and is not located w ithin the splice consensus sequence. It has been identified in 12/15416 South As ian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinst itute.org; dbSNP rs201876556).
GeneDx RCV001703889 SCV000528173 likely benign not provided 2019-03-18 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001177610 SCV001341849 likely benign Cardiomyopathy 2018-12-01 criteria provided, single submitter clinical testing
Invitae RCV001462989 SCV001666918 likely benign Lethal congenital glycogen storage disease of heart 2023-12-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV002371839 SCV002683689 likely benign Cardiovascular phenotype 2022-07-05 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.

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