Functional interpretation, cataloging, and analysis of 1,341 glucose-6-phosphate dehydrogenase variants.

ABSTRACT: Glucose-6-phosphate dehydrogenase (G6PD) deficiency affects over 500 million individuals who can experience anemia in response to oxidative stressors such as certain foods and drugs. Recently, the World Health Organization (WHO) called for revisiting G6PD variant classification as a priority to implement genetic medicine in low- and middle-income countries. Toward this goal, we sought to collect reports of G6PD variants and provide interpretations. We identified 1,341 G6PD variants in population and clinical databases. Using the ACMG standards and guidelines for the interpretation of sequence variants, we provided interpretations for 268 variants, including 186 variants that were not reported or of uncertain significance in ClinVar, bringing the total number of variants with non-conflictin

SUBMITTER: Geck RC 

PROVIDER: S-EPMC9943724 | biostudies-literature | 2023 Feb

REPOSITORIES: biostudies-literature