Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Laboratory for Molecular Medicine, |
RCV000607926 | SCV000731636 | likely pathogenic | Arrhythmogenic right ventricular cardiomyopathy | 2017-07-17 | criteria provided, single submitter | clinical testing | The p.Gln307X variant in DSP has not been previously reported in individuals wit h cardiomyopathy or in large population studies. This nonsense variant leads to a premature termination codon at position 307, which is predicted to lead to a t runcated or absent protein. Frameshift and nonsense variants in DSP are strongly associated with ARVC. In summary, although additional studies are required to f ully establish its clinical significance, the p.Gln307X variant is likely pathog enic. |
| Invitae | RCV003767745 | SCV004580124 | pathogenic | Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 | 2023-12-12 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gln307*) 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: 517382). For these reasons, this variant has been classified as Pathogenic. |