ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.3397C>T (p.Arg1133Cys)

gnomAD frequency: 0.00004  dbSNP: rs748085424
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002533219 SCV000760596 likely benign Catecholaminergic polymorphic ventricular tachycardia 1 2022-11-11 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001175901 SCV001339712 uncertain significance Cardiomyopathy 2023-08-16 criteria provided, single submitter clinical testing This missense variant replaces arginine with cysteine at codon 1133 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 3/249154 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.
Ambry Genetics RCV002458036 SCV002613177 uncertain significance Cardiovascular phenotype 2019-11-13 criteria provided, single submitter clinical testing The p.R1133C variant (also known as c.3397C>T), located in coding exon 28 of the RYR2 gene, results from a C to T substitution at nucleotide position 3397. The arginine at codon 1133 is replaced by cysteine, an amino acid with highly dissimilar properties. This amino acid position is poorly conserved in available vertebrate species, and cysteine is the reference amino acid in other vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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