ClinVar Miner

Submissions for variant NM_000402.4(G6PD):c.233T>C (p.Ile78Thr) (rs76645461)

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
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000224890 SCV000280664 pathogenic not provided 2015-01-23 criteria provided, single submitter clinical testing
Invitae RCV000704108 SCV000833043 pathogenic Anemia, nonspherocytic hemolytic, due to G6PD deficiency 2019-07-26 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with threonine at codon 48 of the G6PD protein (p.Ile48Thr). The isoleucine residue is highly conserved and there is a moderate physicochemical difference between isoleucine and threonine. This variant is present in population databases (rs76645461, ExAC 0.02%). This variant has been reported in many individuals affected with glucose-6-phosphate dehydrogenase (G6PD) deficiency (PMID: 8490627, 16119988, 22018328, 22963789). It is also known as the Aures variant in the literature. ClinVar contains an entry for this variant (Variation ID: 10402). Studies have shown that individuals with this missense change have reduced G6PD enzymatic activity in the blood (PMID: 8490627, 22963789). For these reasons, this variant has been classified as Pathogenic.
Mendelics RCV000704108 SCV001142115 uncertain significance Anemia, nonspherocytic hemolytic, due to G6PD deficiency 2019-05-28 criteria provided, single submitter clinical testing
OMIM RCV000011145 SCV000031372 other G6PD AURES 2013-04-18 no assertion criteria provided literature only
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City RCV000704108 SCV001132842 pathogenic Anemia, nonspherocytic hemolytic, due to G6PD deficiency 2019-01-29 no assertion criteria provided clinical testing

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.