Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Color Diagnostics, |
RCV001525698 | SCV001735878 | likely benign | Cardiomyopathy | 2023-12-05 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003771607 | SCV004679478 | uncertain significance | Arrhythmogenic right ventricular dysplasia 11 | 2023-06-29 | 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. ClinVar contains an entry for this variant (Variation ID: 1172089). This variant has not been reported in the literature in individuals affected with DSC2-related conditions. This variant is present in population databases (rs767293228, gnomAD 0.02%). This sequence change affects codon 72 of the DSC2 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the DSC2 protein. |