ClinVar Miner

Submissions for variant NM_000631.5(NCF4):c.337A>G (p.Met113Val)

gnomAD frequency: 0.00001  dbSNP: rs1250482128
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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 RCV000814170 SCV000954571 uncertain significance Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 2022-10-25 criteria provided, single submitter clinical testing This sequence change replaces methionine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 113 of the NCF4 protein (p.Met113Val). This variant is present in population databases (no rsID available, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with NCF4-related conditions. ClinVar contains an entry for this variant (Variation ID: 657545). 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: "Benign"; 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.
Ambry Genetics RCV004028810 SCV003529059 uncertain significance not specified 2022-12-01 criteria provided, single submitter clinical testing The c.337A>G (p.M113V) alteration is located in exon 4 (coding exon 4) of the NCF4 gene. This alteration results from a A to G substitution at nucleotide position 337, causing the methionine (M) at amino acid position 113 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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