Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001958680 | SCV002234966 | pathogenic | Developmental and epileptic encephalopathy, 23 | 2022-11-22 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 1455645). This variant has not been reported in the literature in individuals affected with DOCK7-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg1678*) 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). |