ClinVar Miner

Submissions for variant NC_000001.10:g.(?_183559271)_(183559464_?)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 RCV004584048 SCV005066441 pathogenic Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 2023-06-27 criteria provided, single submitter clinical testing A similar copy number variant has been observed in individual(s) with chronic granulomatous disease (PMID: 35366317). This variant is a gross deletion of the genomic region encompassing exon(s) 1 of the NCF2 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 NCF2 are known to be pathogenic (PMID: 10498624, 20167518). For these reasons, this variant has been classified as Pathogenic.

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