ClinVar Miner

Submissions for variant NM_000433.4(NCF2):c.482del (p.Lys161fs)

dbSNP: rs1558098982
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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 RCV000690026 SCV000817702 pathogenic Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 2018-05-26 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Lys161Argfs*16) in the NCF2 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been reported as homozygous in an individual affected with chronic granulomatous disease (CGD) (PMID: 20167518). 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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