ClinVar Miner

Submissions for variant NM_000631.5(NCF4):c.544A>C (p.Thr182Pro)

gnomAD frequency: 0.00001  dbSNP: rs1168414742
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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 RCV000648864 SCV000770685 uncertain significance Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 2018-10-31 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with NCF4-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces threonine with proline at codon 182 of the NCF4 protein (p.Thr182Pro). The threonine residue is moderately conserved and there is a small physicochemical difference between threonine and proline.
Ambry Genetics RCV004025761 SCV003741712 uncertain significance not specified 2022-04-08 criteria provided, single submitter clinical testing The c.544A>C (p.T182P) alteration is located in exon 7 (coding exon 7) of the NCF4 gene. This alteration results from a A to C substitution at nucleotide position 544, causing the threonine (T) at amino acid position 182 to be replaced by a proline (P). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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