Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000619441 | SCV000738037 | uncertain significance | Cardiovascular phenotype | 2023-08-24 | criteria provided, single submitter | clinical testing | The p.R1482C variant (also known as c.4444C>T), located in coding exon 34 of the RYR2 gene, results from a C to T substitution at nucleotide position 4444. The arginine at codon 1482 is replaced by cysteine, an amino acid with highly dissimilar 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. |
Color Diagnostics, |
RCV001187320 | SCV001354090 | uncertain significance | Cardiomyopathy | 2023-07-31 | criteria provided, single submitter | clinical testing | This missense variant replaces arginine with cysteine at codon 1482 of the RYR2 protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with RYR2-related disorders in the literature. This variant has been identified in 5/241012 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance. |
Invitae | RCV002531791 | SCV001388326 | likely benign | Catecholaminergic polymorphic ventricular tachycardia 1 | 2023-09-27 | criteria provided, single submitter | clinical testing |