ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.12957C>T (p.Val4319=)

gnomAD frequency: 0.00002  dbSNP: rs727504438
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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 RCV000154825 SCV000204507 likely benign not specified 2012-03-19 criteria provided, single submitter clinical testing Val4319Val in exon 90 of RYR2: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue and is not located wit hin the splice consensus sequence. It has been identified in 1/6664 European Ame rican chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS).
Invitae RCV002516112 SCV000285694 likely benign Catecholaminergic polymorphic ventricular tachycardia 1 2024-01-22 criteria provided, single submitter clinical testing
GeneDx RCV000827542 SCV000969195 likely benign not provided 2018-05-30 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 RCV001179781 SCV001344554 likely benign Cardiomyopathy 2019-02-21 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001179781 SCV002042894 likely benign Cardiomyopathy 2019-12-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV002381494 SCV002690924 likely benign Cardiovascular phenotype 2020-07-06 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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