ClinVar Miner

Submissions for variant NM_000631.5(NCF4):c.145G>A (p.Gly49Arg)

gnomAD frequency: 0.00005  dbSNP: rs148715332
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 RCV000818749 SCV000959379 uncertain significance Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 2023-08-10 criteria provided, single submitter clinical testing An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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. ClinVar contains an entry for this variant (Variation ID: 661353). This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 49 of the NCF4 protein (p.Gly49Arg). This variant is present in population databases (rs148715332, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with NCF4-related conditions.

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.