Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Génétique des Maladies du Développement, |
RCV001172496 | SCV001334249 | pathogenic | Epilepsy, familial focal, with variable foci 1 | criteria provided, single submitter | clinical testing | ||
Invitae | RCV001873594 | SCV002206906 | pathogenic | Familial focal epilepsy with variable foci | 2021-09-26 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 916700). This variant has not been reported in the literature in individuals affected with DEPDC5-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Ile67Tyrfs*22) in the DEPDC5 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in DEPDC5 are known to be pathogenic (PMID: 23542697, 23542701). |