Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000699940 | SCV000828672 | pathogenic | Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 | 2018-03-31 | criteria provided, single submitter | clinical testing | This sequence change results in a premature translational stop signal in the DSP gene (p.Gln1851Cysfs*4). While this is not anticipated to result in nonsense mediated decay, it is expected to result in a truncated DSP protein. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with DSP-related disease. A different truncation (p.Thr2634Lysfs*4) that lies downstream of this variant has been determined to be pathogenic (PMID: 11063735). This suggests that deletion of this region of the DSP protein is causative of disease. For these reasons, this variant has been classified as Pathogenic. |