ClinVar Miner

Submissions for variant NC_000001.10:g.(?_183546714)_(183546862_?)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 RCV004584051 SCV005066444 pathogenic Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 2023-10-05 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 3 of the NCF2 gene. This deletion is out-of-frame, and is expected to create a premature termination codon and result in an absent or disrupted protein product. Loss-of-function variants in NCF2 are known to be pathogenic (PMID: 10498624, 20167518). A similar copy number variant has been observed in individual(s) with clinical features of chronic granulomatous disease (PMID: 33717137). For these reasons, this variant has been classified as Pathogenic.

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