Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002553109 | SCV001207880 | likely benign | Catecholaminergic polymorphic ventricular tachycardia 1 | 2022-09-27 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV001186013 | SCV001352341 | uncertain significance | Cardiomyopathy | 2023-11-28 | criteria provided, single submitter | clinical testing | This missense variant replaces valine with isoleucine at codon 1664 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 10/248998 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. |
Gene |
RCV003153905 | SCV003842613 | uncertain significance | not provided | 2022-09-20 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant does not alter protein structure/function; Not located in one of the three hot-spot regions of the RYR2 gene, where the majority of pathogenic missense variants occur (Medeiros-Domingo et al., 2009); This variant is associated with the following publications: (PMID: 19926015) |