ClinVar Miner

Submissions for variant NC_000009.12:g.(?_214957)_(215049_?)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 RCV000540625 SCV000645679 pathogenic Combined immunodeficiency due to DOCK8 deficiency 2019-12-24 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon 1 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 1 of the DOCK8 gene. This is expected to result in an absent or disrupted protein product. This variant has been reported in a homozygous individual affected with autosomal recessive hyper-IgE syndrome (PMID: 25724123). 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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