ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.7591T>C (p.Cys2531Arg)

dbSNP: rs2547036821
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV003188139 SCV003868897 uncertain significance Cardiovascular phenotype 2022-11-09 criteria provided, single submitter clinical testing The p.C2531R variant (also known as c.7591T>C), located in coding exon 50 of the RYR2 gene, results from a T to C substitution at nucleotide position 7591. The cysteine at codon 2531 is replaced by arginine, an amino acid with highly dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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