ClinVar Miner

Submissions for variant NC_000009.11:g.(?_214977)_(340341_?)del

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003114051 SCV003795355 pathogenic Combined immunodeficiency due to DOCK8 deficiency 2022-08-10 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 1-14 of the DOCK8 gene, which includes the initiator codon. This deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in DOCK8 are known to be pathogenic (PMID: 14722525, 19776401). A similar copy number variant has been observed in individual(s) with hyper IgE syndrome (PMID: 23859592). For these reasons, this variant has been classified as Pathogenic.
Labcorp Genetics (formerly Invitae), Labcorp RCV004579607 SCV005067317 pathogenic not provided 2022-08-10 criteria provided, single submitter clinical testing A similar copy number variant has been observed in individual(s) with hyper IgE syndrome (PMID: 23859592). For these reasons, this variant has been classified as Pathogenic. This variant is a gross deletion of the genomic region encompassing exon(s) 1-14 of the DOCK8 gene, which includes the initiator codon. This deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in DOCK8 are known to be pathogenic (PMID: 14722525, 19776401).

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