Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, |
RCV000622354 | SCV000740449 | uncertain significance | Catecholaminergic polymorphic ventricular tachycardia | 2017-04-27 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV003103814 | SCV001232041 | uncertain significance | Catecholaminergic polymorphic ventricular tachycardia 1 | 2020-01-11 | criteria provided, single submitter | clinical testing | This sequence change replaces isoleucine with methionine at codon 4173 of the RYR2 protein (p.Ile4173Met). The isoleucine residue is highly conserved and there is a small physicochemical difference between isoleucine and methionine. 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with RYR2-related conditions. ClinVar contains an entry for this variant (Variation ID: 520468). This variant is not present in population databases (ExAC no frequency). |