Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Color Diagnostics, |
RCV001188394 | SCV001355451 | likely benign | Cardiomyopathy | 2019-01-22 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001862975 | SCV002218898 | uncertain significance | Arrhythmogenic right ventricular dysplasia 11 | 2022-01-12 | criteria provided, single submitter | clinical testing | This sequence change falls in intron 2 of the DSC2 gene. It does not directly change the encoded amino acid sequence of the DSC2 protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs778131915, gnomAD 0.06%). 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: 926050). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). 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. |