ClinVar Miner

Submissions for variant NC_000009.11:g.(?_271627)_(382685_?)dup

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000708351 SCV000837461 likely pathogenic Combined immunodeficiency due to DOCK8 deficiency 2017-08-17 criteria provided, single submitter clinical testing This variant is a gross duplication of the genomic region encompassing exons 2-22 of the DOCK8 gene. While the exact position of the duplicated exons cannot be determined from this data, the duplicated copy of this region is likely in tandem and may result in an absent or disrupted protein product. This duplication has not been reported in the literature in individuals with DOCK8-related disease. Sub-genic duplications are generally in tandem (PMID: 25640679), and result in an absent or disrupted protein. Loss-of-function variants in DOCK8 are known to be pathogenic (PMID: 14722525, 19776401). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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