ClinVar Miner

Submissions for variant NM_001360016.2(G6PD):c.598G>A (p.Asp200Asn)

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
Dunham Lab, University of Washington RCV002305854 SCV002599211 likely pathogenic Anemia, nonspherocytic hemolytic, due to G6PD deficiency 2022-08-12 criteria provided, single submitter curation Variant alters substrate binding site (PM1) and leads to decreased activity when expressed in S. cerevisiae (PS3_M). Below expected carrier frequency in gnomAD (PM2). Post_P 0.900 (odds of pathogenicity 81.2, 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.