Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Color Diagnostics, |
RCV001188208 | SCV001355224 | uncertain significance | Cardiomyopathy | 2018-12-04 | criteria provided, single submitter | clinical testing | This variant changes 1 nucleotide in the last exon 24 of the DSP gene, creating a premature translation stop signal. This variant is expected to result in an absent or truncated protein product lacking the 157 amino acids from the C-terminal plakin repeat domain C. 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. |