Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV004584127 | SCV005066523 | pathogenic | Developmental and epileptic encephalopathy, 23 | 2023-04-17 | 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 affected with DOCK7-related conditions. This variant is a gross deletion of the genomic region encompassing exon(s) 16-30 of the DOCK7 gene. This deletion is out-of-frame, and is expected to create a premature termination codon and result in an absent or disrupted protein product. Loss-of-function variants in DOCK7 are known to be pathogenic (PMID: 24814191). |