ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.9679C>T (p.Arg3227Cys)

gnomAD frequency: 0.00001  dbSNP: rs747271394
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002555380 SCV002173423 likely benign Catecholaminergic polymorphic ventricular tachycardia 1 2024-08-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV003167092 SCV003868914 uncertain significance Cardiovascular phenotype 2022-12-27 criteria provided, single submitter clinical testing The p.R3227C variant (also known as c.9679C>T), located in coding exon 68 of the RYR2 gene, results from a C to T substitution at nucleotide position 9679. The arginine at codon 3227 is replaced by cysteine, an amino acid with highly dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Color Diagnostics, LLC DBA Color Health RCV003533051 SCV004360741 uncertain significance Cardiomyopathy 2022-03-24 criteria provided, single submitter clinical testing This missense variant replaces arginine with cysteine at codon 3227 of the RYR2 protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with cardiovascular disorders in the literature. This variant has been identified in 3/249102 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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