Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Mendelics | RCV000986325 | SCV001135297 | likely pathogenic | Developmental and epileptic encephalopathy, 23 | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000986325 | SCV001579785 | pathogenic | Developmental and epileptic encephalopathy, 23 | 2021-02-24 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals with DOCK7-related conditions. ClinVar contains an entry for this variant (Variation ID: 801493). This variant is present in population databases (rs758111714, ExAC 0.001%). This sequence change creates a premature translational stop signal (p.Arg445*) 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). |
Genome- |
RCV000986325 | SCV004178488 | likely pathogenic | Developmental and epileptic encephalopathy, 23 | 2023-04-11 | criteria provided, single submitter | clinical testing |