Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000799300 | SCV000938956 | pathogenic | Familial focal epilepsy with variable foci | 2019-11-12 | criteria provided, single submitter | clinical testing | This sequence change results in a premature translational stop signal in the DEPDC5 gene (p.Gln1501*). While this is not anticipated to result in nonsense mediated decay, it is expected to delete the last 103 amino acids of the DEPDC5 protein. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with DEPDC5-related disease. Different truncations (p.Gln1523* and p.Gln1536*) that lie downstream of this variant have been determined to be pathogenic (PMID: 23542701, 23542697, 25366275). This suggests that deletion of this region of the DEPDC5 protein is causative of disease. For these reasons, this variant has been classified as Pathogenic. |