Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Centre for Mendelian Genomics, |
RCV000626865 | SCV000747568 | likely pathogenic | Ventricular arrhythmia; Right ventricular cardiomyopathy | 2017-01-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001389691 | SCV001591141 | pathogenic | Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 | 2020-02-21 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in DSP are known to be pathogenic (PMID: 20716751, 24503780, 25227139). This variant has not been reported in the literature in individuals with DSP-related conditions. ClinVar contains an entry for this variant (Variation ID: 523474). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Glu1265*) in the DSP gene. It is expected to result in an absent or disrupted protein product. |