ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.5962T>C (p.Cys1988Arg)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
MGZ Medical Genetics Center RCV002290245 SCV002579474 uncertain significance Arrhythmogenic right ventricular dysplasia 2 2021-08-23 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV003533156 SCV004360640 uncertain significance Cardiomyopathy 2023-08-02 criteria provided, single submitter clinical testing This missense variant replaces cysteine with arginine at codon 1988 of the RYR2 protein. Computational prediction is inconclusive regarding the impact of this variant on protein structure and function (internally defined REVEL score threshold 0.5 < inconclusive < 0.7, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with RYR2-related disorders in the literature. This variant has been identified in 1/249206 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

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