Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001222130 | SCV001394214 | uncertain significance | Arrhythmogenic right ventricular dysplasia 11 | 2019-07-26 | criteria provided, single submitter | clinical testing | 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 create or strengthen a 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 DSC2-related conditions. This variant is present in population databases (rs774025474, ExAC 0.003%). This sequence change affects codon 183 of the DSC2 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the DSC2 protein. |
All of Us Research Program, |
RCV004010743 | SCV004843863 | likely benign | Familial isolated arrhythmogenic right ventricular dysplasia | 2023-11-20 | criteria provided, single submitter | clinical testing |