Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV002531456 | SCV000820831 | uncertain significance | Catecholaminergic polymorphic ventricular tachycardia 1 | 2022-02-01 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals affected with RYR2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces leucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 3320 of the RYR2 protein (p.Leu3320Val). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 571752). |
| Ambry Genetics | RCV003163164 | SCV003858428 | uncertain significance | Cardiovascular phenotype | 2022-11-01 | criteria provided, single submitter | clinical testing | The p.L3320V variant (also known as c.9958T>G), located in coding exon 69 of the RYR2 gene, results from a T to G substitution at nucleotide position 9958. The leucine at codon 3320 is replaced by valine, an amino acid with highly similar properties. This amino acid position is well 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. |