Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002796671 | SCV003201319 | pathogenic | Developmental and epileptic encephalopathy, 23 | 2022-05-17 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Asn2023Lysfs*14) 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 present in population databases (no rsID available, gnomAD 0.007%). 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. |