Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002927728 | SCV003263705 | pathogenic | Developmental and epileptic encephalopathy, 23 | 2023-08-04 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Ser1863Ilefs*18) 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). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with DOCK7-related conditions. ClinVar contains an entry for this variant (Variation ID: 2054099). For these reasons, this variant has been classified as Pathogenic. |