ClinVar Miner

Submissions for variant NM_001360016.2(G6PD):c.1441C>G (p.Pro481Ala)

dbSNP: rs202122673
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV001420427 SCV001622559 uncertain significance Anemia, nonspherocytic hemolytic, due to G6PD deficiency 2021-04-28 criteria provided, single submitter research
Dunham Lab, University of Washington RCV001420427 SCV002599299 likely pathogenic Anemia, nonspherocytic hemolytic, due to G6PD deficiency 2022-08-12 criteria provided, single submitter curation Variant found in heterozygote with G6PD deficiency (PP4). Decreased actvity in red blood cells (37-77%) (PS3). Not found in gnomAD (PM2). Not found in gnomAD (PM2). Post_P 0.949 (odds of pathogenicity 168.4, Prior_P 0.1).

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.