ClinVar Miner

Submissions for variant NM_000433.4(NCF2):c.550C>T (p.Arg184Ter)

gnomAD frequency: 0.00003  dbSNP: rs766745748
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV000788837 SCV000928097 likely pathogenic not provided 2018-12-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002535792 SCV003516123 pathogenic Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 2024-11-04 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg184*) 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 (rs766745748, gnomAD 0.003%). This premature translational stop signal has been observed in individual(s) with chronic granulomatous disease (PMID: 20167518, 30470980). ClinVar contains an entry for this variant (Variation ID: 636881). 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.
GeneDx RCV000788837 SCV005080852 pathogenic not provided 2024-04-22 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 25525159, 20167518, 28251166, 30470980, 32441320, 33365035, 33717137)

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