ClinVar Miner

Submissions for variant NM_016203.4(PRKAG2):c.1020A>G (p.Glu340=)

gnomAD frequency: 0.00001  dbSNP: rs770773856
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000443686 SCV000522577 likely benign not specified 2015-12-29 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.
Color Diagnostics, LLC DBA Color Health RCV001188684 SCV001355810 likely benign Cardiomyopathy 2019-06-10 criteria provided, single submitter clinical testing
Invitae RCV001426952 SCV001629622 likely benign Lethal congenital glycogen storage disease of heart 2023-10-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV003343817 SCV004051969 likely benign Cardiovascular phenotype 2023-08-22 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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