Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002554554 | SCV001233913 | pathogenic | Catecholaminergic polymorphic ventricular tachycardia 1 | 2023-09-18 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Experimental studies have shown that this missense change affects CASQ2 function (PMID: 16601229, 17881003, 18469084, 18583715, 20353949, 21063088, 21265816). 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on CASQ2 protein function. ClinVar contains an entry for this variant (Variation ID: 862119). This missense change has been observed in individuals with catecholaminergic polymorphic ventricular tachycardia (PMID: 16601229, 31482657, 32693635). This variant is present in population databases (rs749547712, gnomAD 0.003%). This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 33 of the CASQ2 protein (p.Arg33Gln). |
Fulgent Genetics, |
RCV002505654 | SCV002815671 | likely pathogenic | Catecholaminergic polymorphic ventricular tachycardia 1; Catecholaminergic polymorphic ventricular tachycardia 2 | 2021-09-17 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003339457 | SCV004048992 | likely pathogenic | Catecholaminergic polymorphic ventricular tachycardia 2 | 2023-04-11 | criteria provided, single submitter | clinical testing |