ClinVar Miner

Submissions for variant NM_016203.4(PRKAG2):c.570C>T (p.Arg190=)

gnomAD frequency: 0.00001  dbSNP: rs141191531
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000541401 SCV000640348 likely benign Lethal congenital glycogen storage disease of heart 2024-01-03 criteria provided, single submitter clinical testing
GeneDx RCV000610946 SCV000726226 likely benign not specified 2018-01-19 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 RCV000777841 SCV000913842 likely benign Cardiomyopathy 2018-05-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV002350274 SCV002649601 likely benign Cardiovascular phenotype 2022-01-25 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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