Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular 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. |