Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003747083 | SCV004490906 | pathogenic | Developmental and epileptic encephalopathy, 23 | 2022-12-06 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals affected with DOCK7-related conditions. For these reasons, this variant has been classified as Pathogenic. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ser1083Trpfs*13) in the DOCK7 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in DOCK7 are known to be pathogenic (PMID: 24814191). |