ClinVar Miner

Submissions for variant NM_016203.4(PRKAG2):c.202G>A (p.Gly68Ser)

gnomAD frequency: 0.00001  dbSNP: rs730880970
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000158992 SCV000208933 likely benign not specified 2015-04-29 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.
Illumina Laboratory Services, Illumina RCV000278666 SCV000467666 uncertain significance Lethal congenital glycogen storage disease of heart 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001795281 SCV000467667 uncertain significance Wolff-Parkinson-White pattern 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000390669 SCV000467668 uncertain significance Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome 2016-06-14 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001179302 SCV001343933 likely benign Cardiomyopathy 2019-05-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000278666 SCV002144025 likely benign Lethal congenital glycogen storage disease of heart 2024-11-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV002415695 SCV002718703 likely benign Cardiovascular phenotype 2021-06-24 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.

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