ClinVar Miner

Submissions for variant NC_000001.10:g.(?_183542300)_(183542447_?)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 RCV003111226 SCV003793245 pathogenic Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 2021-11-13 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 5 of the NCF2 gene. This variant would be expected to be in-frame, preserving the integrity of the reading frame. For these reasons, this variant has been classified as Pathogenic. Experimental studies have shown that a similar copy number variant affects NCF2 function (PMID: 19953534). Algorithms developed to predict the effect of variants on protein structure and function are not available or were not evaluated for this variant. A similar copy number variant has been observed in individuals with chronic granulomatous disease (PMID: 19953534). It has also been observed to segregate with disease in related individuals.

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