Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Color Diagnostics, |
RCV001186998 | SCV001353653 | uncertain significance | Cardiomyopathy | 2018-11-20 | criteria provided, single submitter | clinical testing | Variant of Uncertain Significance due to insufficient evidence: This variant changes 1 nucleotide in the last exon 16 of the DSC2 gene, creating a premature translation stop signal. This variant is expected to result in a protein product missing the last 4 amino acids of the protein. 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 is rare in the general population and has been identified in 0/277264 chromosomes by the Genome Aggregation Database (gnomAD). Available evidence is insufficient to determine the pathogenicity of this variant conclusively. |
Invitae | RCV002559960 | SCV002938372 | uncertain significance | Arrhythmogenic right ventricular dysplasia 11 | 2022-04-12 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Cys898*) in the DSC2 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 4 amino acid(s) of the DSC2 protein. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with DSC2-related conditions. ClinVar contains an entry for this variant (Variation ID: 925175). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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. |