ClinVar Miner

Submissions for variant NM_000433.4(NCF2):c.574C>T (p.Gln192Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002648228 SCV003524007 pathogenic Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 2022-10-20 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This premature translational stop signal has been observed in individual(s) with chronic granulomatous disease (PMID: 19683193). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln192*) 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).
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV002648228 SCV004801264 pathogenic Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 2024-03-14 criteria provided, single submitter research

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