Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001852798 | SCV002242670 | pathogenic | Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 | 2023-12-19 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gln1810*) in the DSP gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 1062 amino acid(s) of the DSP protein. This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with clinical features of arrhythmogenic right ventricular cardiomyopathy (PMID: 23812740). ClinVar contains an entry for this variant (Variation ID: 44928). This variant disrupts a region of the DSP protein in which other variant(s) (p.Glu2728Glyfs*11) have been determined to be pathogenic (Invitae). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic. |
| Gene |
RCV002468992 | SCV002765339 | pathogenic | not provided | 2022-06-20 | criteria provided, single submitter | clinical testing | Nonsense variant predicted to result in protein truncation in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 23812740, 31402444, 34946881) |
| Laboratory for Molecular Medicine, |
RCV000038064 | SCV000061730 | likely pathogenic | Arrhythmogenic right ventricular cardiomyopathy | 2008-04-08 | no assertion criteria provided | clinical testing |