ClinVar Miner

Submissions for variant NM_016203.4(PRKAG2):c.331C>A (p.Gln111Lys)

gnomAD frequency: 0.00001  dbSNP: rs778331706
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000869940 SCV001011402 likely benign Lethal congenital glycogen storage disease of heart 2023-12-30 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001181536 SCV001346709 likely benign Cardiomyopathy 2019-04-01 criteria provided, single submitter clinical testing
GeneDx RCV001549665 SCV001769857 likely benign not provided 2019-07-11 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV002454000 SCV002611613 likely benign Cardiovascular phenotype 2022-02-21 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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