ClinVar Miner

Submissions for variant NM_000433.4(NCF2):c.298C>T (p.Gln100Ter)

dbSNP: rs119103276
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV000002332 SCV002018233 pathogenic Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 2020-09-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000002332 SCV004293858 pathogenic Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 2023-11-01 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln100*) 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 premature translational stop signal has been observed in individual(s) with chronic granulomatous disease (PMID: 10598813). ClinVar contains an entry for this variant (Variation ID: 2244). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000002332 SCV000022490 pathogenic Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 1999-11-01 no assertion criteria provided literature only

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