Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002522779 | SCV000541682 | uncertain significance | Catecholaminergic polymorphic ventricular tachycardia 1 | 2021-04-29 | criteria provided, single submitter | clinical testing | This sequence change falls in intron 44 of the RYR2 gene. It does not directly change the encoded amino acid sequence of the RYR2 protein. 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. This variant has not been reported in the literature in individuals with RYR2-related disease. ClinVar contains an entry for this variant (Variation ID: 404206). This variant is not present in population databases (ExAC no frequency). |