ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.6250A>G (p.Met2084Val)

dbSNP: rs1553531464
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000610740 SCV000713466 uncertain significance not specified 2017-08-18 criteria provided, single submitter clinical testing The p.Met2084Val variant in RYR2 has not been previously reported in individuals with cardiomyopathy and was absent from large population studies. Computational prediction tools and conservation analysis suggest that the p.Met2084Val varian t may impact the protein, though this information is not predictive enough to de termine pathogenicity. In summary, the clinical significance of the p.Met2084Val variant is uncertain.
Ambry Genetics RCV000621630 SCV000738259 uncertain significance Cardiovascular phenotype 2017-12-14 criteria provided, single submitter clinical testing The p.M2084V variant (also known as c.6250A>G), located in coding exon 41 of the RYR2 gene, results from an A to G substitution at nucleotide position 6250. The methionine at codon 2084 is replaced by valine, an amino acid with highly similar properties. This amino acid position is highly conserved in available 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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