Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Mayo Clinic Laboratories, |
RCV001508931 | SCV001715371 | likely pathogenic | not provided | 2019-06-18 | criteria provided, single submitter | clinical testing | PVS1, PM2 |
Invitae | RCV001865948 | SCV002237721 | pathogenic | Familial focal epilepsy with variable foci | 2021-10-24 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Val73Aspfs*15) 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). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1163674). 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). |