Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000802564 | SCV000942401 | pathogenic | Combined immunodeficiency due to DOCK8 deficiency | 2021-08-04 | criteria provided, single submitter | clinical testing | This variant is a gross deletion of the genomic region encompassing exon(s) 11-14 of the DOCK8 gene. This deletion is out-of-frame, and is expected to create a premature translational stop signal and result in an absent or disrupted protein product. Loss-of-function variants in DOCK8 are known to be pathogenic (PMID: 14722525, 19776401). A similar copy number variant has been observed in individual(s) with hyper IgE syndrome (PMID: 25724123, 27398204). For these reasons, this variant has been classified as Pathogenic. |