ClinVar Miner

Submissions for variant NM_016203.4(PRKAG2):c.1479G>A (p.Thr493=)

gnomAD frequency: 0.00001  dbSNP: rs367768776
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000428406 SCV000526706 likely benign not specified 2017-01-26 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.
Invitae RCV000883013 SCV001026284 likely benign Lethal congenital glycogen storage disease of heart 2023-12-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV003168663 SCV003902609 likely benign Cardiovascular phenotype 2023-03-13 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.
Color Diagnostics, LLC DBA Color Health RCV003532105 SCV004359736 likely benign Cardiomyopathy 2022-11-06 criteria provided, single submitter clinical testing

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