ClinVar Miner

Submissions for variant NM_000433.4(NCF2):c.1120C>T (p.Gln374Ter)

dbSNP: rs1572151178
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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 RCV000816923 SCV000957452 pathogenic Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 2023-10-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln374*) 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 not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with NCF2-related conditions. ClinVar contains an entry for this variant (Variation ID: 659851). For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV001561611 SCV001784240 pathogenic not provided 2021-02-18 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; Not observed in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 31456102)

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