ClinVar Miner

Submissions for variant NC_000009.12:g.(?_214957)_(422155_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000802592 SCV000942429 pathogenic Combined immunodeficiency due to DOCK8 deficiency 2018-08-21 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exons 1-33 of the DOCK8 gene, which includes the initiator codon. The 5' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes. The 3' boundary is likely confined to intron 33 of the DOCK8 gene. This is expected to 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). For these reasons, this variant has been classified as Pathogenic.

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