Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV002050260 | SCV002312132 | uncertain significance | Arrhythmogenic right ventricular dysplasia 10 | 2021-10-27 | criteria provided, single submitter | clinical testing | This sequence change disrupts the translational stop signal of the DSG2 mRNA. It is expected to extend the length of the DSG2 protein by 16 additional amino acid residues. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with DSG2-related conditions. 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. |