ClinVar Miner

Submissions for variant NM_000433.4(NCF2):c.229C>T (p.Arg77Ter)

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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 RCV003499912 SCV004293859 pathogenic Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 2023-10-05 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg77*) 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). This variant is present in population databases (rs752901695, gnomAD 0.004%). This premature translational stop signal has been observed in individual(s) with chronic granulomatous disease (PMID: 19624736, 32040803). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV003499912 SCV004801265 pathogenic Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 2024-03-14 criteria provided, single submitter research

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