ClinVar Miner

Submissions for variant NM_001360016.2(G6PD):c.827C>T (p.Pro276Leu)

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 RCV002305773 SCV002599346 pathogenic Anemia, nonspherocytic hemolytic, due to G6PD deficiency 2022-08-12 criteria provided, single submitter curation Variant found in hemizygotes with deficiency and CNSHA (PP4). For one, mother is heterozygous and has decreased G6PD activity (PP1); for other, variant not found in mother so assumed de novo (PM6). Decreased activity in red blood cells (0-23%) (PS3). Not found in gnomAD (PM2). Post_P 0.994 (odds of pathogenicity 1517, 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.