Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Color Diagnostics, |
RCV001178942 | SCV001343508 | likely benign | Cardiomyopathy | 2023-09-11 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV003769937 | SCV004679244 | likely benign | Arrhythmogenic right ventricular dysplasia 10 | 2023-12-31 | criteria provided, single submitter | clinical testing | |
All of Us Research Program, |
RCV004006514 | SCV004819970 | likely benign | Arrhythmogenic right ventricular cardiomyopathy | 2023-09-17 | criteria provided, single submitter | clinical testing | This synonymous variant does not change the amino acid sequence of the DSG2 protein. However, computational splicing tools suggest that this variant may impact RNA splicing by creating a new splice acceptor site. To our knowledge, functional assays have not been performed for this variant nor has this variant been reported in individuals affected with cardiovascular disorders in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance. |