ClinVar Miner

Submissions for variant NM_000631.5(NCF4):c.759-58C>T

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002629878 SCV003523838 uncertain significance Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 2022-02-06 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with NCF4-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.002%). This sequence change replaces histidine, which is basic and polar, with tyrosine, which is neutral and polar, at codon 316 of the NCF4 protein (p.His316Tyr). 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 RCV004654164 SCV005145238 uncertain significance not specified 2024-03-15 criteria provided, single submitter clinical testing The c.946C>T (p.H316Y) alteration is located in exon 8 (coding exon 8) of the NCF4 gene. This alteration results from a C to T substitution at nucleotide position 946, causing the histidine (H) at amino acid position 316 to be replaced by a tyrosine (Y). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.