Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002533219 | SCV000760596 | likely benign | Catecholaminergic polymorphic ventricular tachycardia 1 | 2022-11-11 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV001175901 | SCV001339712 | uncertain significance | Cardiomyopathy | 2023-08-16 | criteria provided, single submitter | clinical testing | This missense variant replaces arginine with cysteine at codon 1133 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 cardiovascular disorders in the literature. This variant has been identified in 3/249154 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. |
Ambry Genetics | RCV002458036 | SCV002613177 | uncertain significance | Cardiovascular phenotype | 2019-11-13 | criteria provided, single submitter | clinical testing | The p.R1133C variant (also known as c.3397C>T), located in coding exon 28 of the RYR2 gene, results from a C to T substitution at nucleotide position 3397. The arginine at codon 1133 is replaced by cysteine, an amino acid with highly dissimilar properties. This amino acid position is poorly conserved in available vertebrate species, and cysteine is the reference amino acid in other 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. |