ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.1296C>A (p.Gly432=)

gnomAD frequency: 0.00103  dbSNP: rs184176405
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000154812 SCV000171404 benign not specified 2014-01-23 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.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000154812 SCV000204492 benign not specified 2015-03-23 criteria provided, single submitter clinical testing p.Gly432Gly in exon 15 of RYR2: This variant is not expected to have clinical si gnificance because it has been identified in 0.3% (31/9760) of African chromosom es by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; db SNP rs184176405).
Invitae RCV002514688 SCV000285696 benign Catecholaminergic polymorphic ventricular tachycardia 1 2024-02-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV000621691 SCV000737569 likely benign Cardiovascular phenotype 2016-07-01 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.
Color Diagnostics, LLC DBA Color Health RCV001190871 SCV001358500 benign Cardiomyopathy 2018-10-21 criteria provided, single submitter clinical testing

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