ClinVar Miner

Submissions for variant NC_000009.12:g.(?_286441)_(464239_?)del

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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 RCV000645187 SCV000766929 pathogenic Combined immunodeficiency due to DOCK8 deficiency 2017-11-06 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exons 3-48 of the DOCK8 gene. The 5' boundary is likely confined to intron 2. The 3' end of this event is unknown as it extends through the termination codon beyond the assayed region for this gene and may encompass additional genes. While this deletion is not anticipated to result in nonsense mediated decay, it is expected to create a severely truncated protein product or disrupt mRNA translation. Deletions of exons 3-48 have 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). For these reasons, this variant has been classified as Pathogenic.

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