ClinVar Miner

Submissions for variant NC_000001.11:g.183586978del

dbSNP: rs2102934597
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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 RCV001972801 SCV002239073 pathogenic Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 2020-12-10 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with NCF2-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Ala59Profs*40) in the NCF2 gene. 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). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. For these reasons, this variant has been classified as Pathogenic.

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