ClinVar Miner

Submissions for variant NC_000001.10:g.(?_183536035)_(183536500_?)dup

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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 RCV000642284 SCV000763953 pathogenic Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 2023-08-27 criteria provided, single submitter clinical testing This variant results in a copy number gain of the genomic region encompassing exon(s) 8-9 of the NCF2 gene. While the exact position of this variant cannot be determined from the data, sub-genic copy number gains are generally in tandem (PMID: 25640679). This variant is predicted to be out-of-frame, and may 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 individuals with chronic granulomatous disease (PMID: 11499676). This variant is also known as a duplication of exons 9-10. For these reasons, this variant has been classified as Pathogenic.

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