ClinVar Miner

Submissions for variant NM_016203.4(PRKAG2):c.1311C>T (p.Ala437=)

dbSNP: rs1258494294
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001183182 SCV001348839 likely benign Cardiomyopathy 2019-11-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV002379707 SCV002691645 likely benign Cardiovascular phenotype 2021-12-07 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV003617905 SCV004463504 likely benign Lethal congenital glycogen storage disease of heart 2023-02-04 criteria provided, single submitter clinical testing

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