ClinVar Miner

Submissions for variant NM_000320.3(QDPR):c.445G>C (p.Gly149Arg)

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 RCV003495482 SCV004247914 likely pathogenic Dihydropteridine reductase deficiency 2023-11-17 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 149 of the QDPR protein (p.Gly149Arg). This variant is not present in population databases (gnomAD no frequency). A different variant (c.445G>A) giving rise to the same protein effect has been determined to be pathogenic (PMID: 11153907, 21890392). This suggests that this variant is also likely to be causative of disease. 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 currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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.