ClinVar Miner

Submissions for variant NM_016203.4(PRKAG2):c.165C>T (p.Ser55=)

gnomAD frequency: 0.00004  dbSNP: rs202056358
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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 RCV001191208 SCV001358949 likely benign Cardiomyopathy 2018-11-30 criteria provided, single submitter clinical testing
Invitae RCV001486077 SCV001690527 likely benign Lethal congenital glycogen storage disease of heart 2023-12-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002402556 SCV002707184 likely benign Cardiovascular phenotype 2020-12-10 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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