ClinVar Miner

Submissions for variant NM_000631.5(NCF4):c.665C>T (p.Ser222Phe)

dbSNP: rs754272966
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001326369 SCV001517398 uncertain significance Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 2020-06-18 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with NCF4-related conditions. This sequence change replaces serine with phenylalanine at codon 222 of the NCF4 protein (p.Ser222Phe). The serine residue is highly conserved and there is a large physicochemical difference between serine and phenylalanine. This variant is present in population databases (rs754272966, ExAC 0.002%). 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 C15"). 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.

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.