ClinVar Miner

Submissions for variant NM_016203.4(PRKAG2):c.993T>C (p.Tyr331=)

dbSNP: rs397517284
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000038963 SCV000062641 likely benign not specified 2008-06-25 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000770263 SCV000901695 likely benign Cardiomyopathy 2016-04-26 criteria provided, single submitter clinical testing
GeneDx RCV000831464 SCV000973214 likely benign not provided 2018-06-18 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.
Invitae RCV001482000 SCV001686360 likely benign Lethal congenital glycogen storage disease of heart 2023-12-14 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000770263 SCV001736350 likely benign Cardiomyopathy 2020-09-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV002381314 SCV002688850 likely benign Cardiovascular phenotype 2021-08-12 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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