Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000642523 | SCV000764208 | pathogenic | Familial focal epilepsy with variable foci | 2019-07-15 | criteria provided, single submitter | clinical testing | This variant is an out-of-frame deletion of the genomic region encompassing exons 19-29 of the DEPDC5 gene. This is expected to create a premature translational stop signal and result in an absent or disrupted protein product. Deletion of exons 19-29 has not been reported in the literature in individuals with a DEPDC5-related disease. Loss-of-function variants in DEPDC5 are known to be pathogenic (PMID: 23542697, 23542701). For these reasons, this variant has been classified as Pathogenic. |