Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003055399 | SCV003338798 | pathogenic | Developmental and epileptic encephalopathy, 23 | 2023-08-17 | 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: 2127238). This variant has not been reported in the literature in individuals affected with DOCK7-related conditions. This variant is present in population databases (rs778159924, gnomAD 0.003%). This sequence change creates a premature translational stop signal (p.Arg2051*) 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). |