Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002529898 | SCV000760604 | likely benign | Catecholaminergic polymorphic ventricular tachycardia 1 | 2023-10-18 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV001181045 | SCV001346109 | uncertain significance | Cardiomyopathy | 2021-12-16 | criteria provided, single submitter | clinical testing | This variant replaces glutamic acid with aspartic acid at codon 1682 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 5/280592 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. |