Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000594627 | SCV000706624 | uncertain significance | not provided | 2017-03-15 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV001178640 | SCV001343143 | uncertain significance | Cardiomyopathy | 2021-07-27 | criteria provided, single submitter | clinical testing | This variant is located in the RYR2 protein. Computational prediction suggests that this variant may have deleterious impact on protein structure and function (internally defined REVEL score threshold >= 0.7, 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 2/245636 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 | RCV003302917 | SCV004009317 | uncertain significance | Cardiovascular phenotype | 2023-04-06 | criteria provided, single submitter | clinical testing | The p.R3597K variant (also known as c.10790G>A), located in coding exon 76 of the RYR2 gene, results from a G to A substitution at nucleotide position 10790. The arginine at codon 3597 is replaced by lysine, an amino acid with highly similar properties. This amino acid position is highly 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. |