Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002534843 | SCV000955005 | uncertain significance | Catecholaminergic polymorphic ventricular tachycardia 1 | 2018-10-23 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (ExAC no frequency). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the affected amino acid(s) is currently unknown. This variant has not been reported in the literature in individuals with RYR2-related disease. This sequence change results in a premature translational stop signal in the RYR2 gene (p.Gln4961*). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 7 amino acids of the RYR2 protein. |