Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV000578715 | SCV000681337 | pathogenic | not provided | 2018-01-05 | criteria provided, single submitter | clinical testing | The E1081X variant in the DSP gene has not been reported as a pathogenic or benign to our knowledge. E1081X is predicted to cause loss of normal protein function either by protein truncation or nonsense-mediated mRNA decay. Numerous other truncating variants in the DSP gene have been reported in the Human Gene Mutation Database in association with DSP-related disorders (Stenson et al., 2014), indicating that loss of function is a mechanism of disease for this gene. Furthermore, the E1081X variant is not observed in large population cohorts (Lek et al., 2016). |
| Invitae | RCV000689303 | SCV000816946 | pathogenic | Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 | 2021-12-13 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Glu1081*) in the DSP gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in DSP are known to be pathogenic (PMID: 20716751, 24503780, 25227139). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with DSP-related conditions. ClinVar contains an entry for this variant (Variation ID: 489339). For these reasons, this variant has been classified as Pathogenic. |