ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.6841G>A (p.Val2281Met)

dbSNP: rs2546959051
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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 RCV002362072 SCV002666662 uncertain significance Cardiovascular phenotype 2021-10-19 criteria provided, single submitter clinical testing The p.V2281M variant (also known as c.6841G>A), located in coding exon 45 of the RYR2 gene, results from a G to A substitution at nucleotide position 6841. The valine at codon 2281 is replaced by methionine, an amino acid with highly similar properties. This amino acid position is not well 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.

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