ClinVar Miner

Submissions for variant NM_000631.5(NCF4):c.451C>T (p.Arg151Cys)

gnomAD frequency: 0.00007  dbSNP: rs150976323
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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 RCV001041089 SCV001204684 uncertain significance Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 2021-11-16 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 151 of the NCF4 protein (p.Arg151Cys). This variant is present in population databases (rs150976323, gnomAD 0.02%). This missense change has been observed in individual(s) with inflammatory bowel disease (PMID: 29454792). ClinVar contains an entry for this variant (Variation ID: 839355). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Mayo Clinic Laboratories, Mayo Clinic RCV004792651 SCV005410253 uncertain significance not provided 2024-09-03 criteria provided, single submitter clinical testing

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