Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV002550935 | SCV001570669 | uncertain significance | Catecholaminergic polymorphic ventricular tachycardia 1 | 2025-01-26 | criteria provided, single submitter | clinical testing | This sequence change replaces threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 3229 of the RYR2 protein (p.Thr3229Ile). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with RYR2-related conditions. ClinVar contains an entry for this variant (Variation ID: 1064019). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt RYR2 protein function with a negative predictive value of 95%. 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. |
| Ambry Genetics | RCV002377559 | SCV002690543 | uncertain significance | Cardiovascular phenotype | 2020-06-09 | criteria provided, single submitter | clinical testing | The p.T3229I variant (also known as c.9686C>T), located in coding exon 68 of the RYR2 gene, results from a C to T substitution at nucleotide position 9686. The threonine at codon 3229 is replaced by isoleucine, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
| Fulgent Genetics, |
RCV002493903 | SCV002788757 | uncertain significance | Arrhythmogenic right ventricular dysplasia 2; Catecholaminergic polymorphic ventricular tachycardia 1; Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome | 2021-08-10 | criteria provided, single submitter | clinical testing | |
| All of Us Research Program, |
RCV004006843 | SCV004842708 | uncertain significance | Catecholaminergic polymorphic ventricular tachycardia | 2024-01-11 | criteria provided, single submitter | clinical testing |