ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.14136C>A (p.Val4712=)

dbSNP: rs756435572
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000440478 SCV000528602 likely benign not specified 2016-06-10 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 RCV001184553 SCV001350562 likely benign Cardiomyopathy 2019-01-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002525425 SCV001668485 likely benign Catecholaminergic polymorphic ventricular tachycardia 1 2024-12-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV002393015 SCV002700358 uncertain significance Cardiovascular phenotype 2022-05-02 criteria provided, single submitter clinical testing The c.14136C>A variant (also known as p.V4712V), located in coding exon 98 of the RYR2 gene. This variant results from a C to A substitution at nucleotide position 14136. This nucleotide substitution does not change the valine at codon 4712. This nucleotide position is poorly conserved in available vertebrate species. In silico splice site analysis for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
All of Us Research Program, National Institutes of Health RCV004000462 SCV004822250 likely benign Catecholaminergic polymorphic ventricular tachycardia 2023-12-01 criteria provided, single submitter clinical testing

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