ClinVar Miner

Submissions for variant NM_001366110.1(PAX4):c.133C>T (p.Arg45Trp)

gnomAD frequency: 0.00127  dbSNP: rs35155575
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory,University of Chicago RCV000502142 SCV000596237 benign not specified 2018-07-31 criteria provided, single submitter clinical testing
GeneDx RCV001555013 SCV001776359 uncertain significance not provided 2021-08-23 criteria provided, single submitter clinical testing Published functional studies suggest a damaging effect, specifically in vitro analyses illustrate a reduction in the PAX4-binding ability to target gene promoters (Mauvais-Jarvis et al., 2004); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 32801813, 15509590, 20981092)
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000502142 SCV002103633 likely benign not specified 2022-02-20 criteria provided, single submitter clinical testing
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital RCV001555013 SCV002525698 uncertain significance not provided 2019-12-17 criteria provided, single submitter clinical testing The p.Arg37Trp variant is predicted to substitute the arginine at position 37 with a tryptophan and the majority of in silico tools predict this variant has a damaging effect. This variant was reported as a heterozygous change in a single individual with ketosis-prone diabetes and was demonstrated to have reduced function in in vitro assays (PMID: 15509590). This variant is found in individuals with African ancestry with an allele frequency of 0.5% (~1/100 are carriers; 1 individual with homozygous change) in the Genome Aggregation Database.
OMIM RCV000014802 SCV000035057 risk factor Diabetes mellitus, ketosis-prone, susceptibility to 2004-12-15 no assertion criteria provided literature only

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.