Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Medical Genetics and Applied Genomics, |
RCV001291543 | SCV001480061 | likely pathogenic | not provided | 2021-02-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003770472 | SCV004592334 | pathogenic | Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 | 2023-02-04 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Trp493*) 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: 996764). For these reasons, this variant has been classified as Pathogenic. |