ClinVar Miner

Submissions for variant NC_000009.11:g.(?_271627)_(399259_?)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 RCV000708328 SCV000837438 likely pathogenic Combined immunodeficiency due to DOCK8 deficiency 2018-01-25 criteria provided, single submitter clinical testing This variant is a gross duplication of the genomic region encompassing exons 2-26 of the DOCK8 gene. While the exact position of the duplicated exons cannot be determined from this data, sub-genic duplications are generally in tandem (PMID: 25640679) and may result in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with DOCK8-related disease. 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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