Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001031660 | SCV001194966 | pathogenic | Combined immunodeficiency due to DOCK8 deficiency | 2019-11-14 | criteria provided, single submitter | clinical testing | This variant is an out-of-frame deletion of the genomic region encompassing exons 10-11 of the DOCK8 gene. This is expected to create a premature translational stop signal and result in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with DOCK8-related conditions. Loss-of-function variants in DOCK8 are known to be pathogenic (PMID: 14722525, 19776401). For these reasons, this variant has been classified as Pathogenic. |