Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002539693 | SCV003472395 | uncertain significance | Catecholaminergic polymorphic ventricular tachycardia 1 | 2023-10-20 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine, which is basic and polar, with proline, which is neutral and non-polar, at codon 2566 of the RYR2 protein (p.Arg2566Pro). This variant is present in population databases (rs532016557, gnomAD 0.002%). This missense change has been observed in individual(s) with clinical features of RYR2-related conditions (Invitae). ClinVar contains an entry for this variant (Variation ID: 1284550). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt RYR2 protein function. 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. |
Clinical Genetics, |
RCV001699751 | SCV001922960 | uncertain significance | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV001699751 | SCV001965986 | uncertain significance | not provided | no assertion criteria provided | clinical testing |