ClinVar Miner

Submissions for variant NM_016203.4(PRKAG2):c.556C>A (p.Arg186=)

gnomAD frequency: 0.00001  dbSNP: rs200392688
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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 RCV000774513 SCV000908216 likely benign Cardiomyopathy 2018-10-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001457270 SCV001661069 likely benign Lethal congenital glycogen storage disease of heart 2024-05-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV002343628 SCV002650901 likely benign Cardiovascular phenotype 2020-03-24 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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