Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000639082 | SCV000760643 | uncertain significance | Catecholaminergic polymorphic ventricular tachycardia | 2018-02-19 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Asp2511Glufs*18) in the RYR2 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with RYR2-related disease. The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in RYR2 cause disease. 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. |