ClinVar Miner

Submissions for variant G6PD A-

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Dunham Lab, University of Washington RCV002305425 SCV002599183 likely pathogenic Anemia, nonspherocytic hemolytic, due to G6PD deficiency 2022-08-12 criteria provided, single submitter curation Variant found in hemizygotes with G6PD deficiency, some with anemia, favism, and jaundice (PP4). Decreased activity in red blood cells of hemizygotes (6-60%) (PS3). Variant and phenotype inheritance from mother to son recorded in two families (PP1), and also identified in unrelated individuals (PS4_M). Post_P 0.975 (odds of pathogenicity 350.3, Prior_P 0.1).
New York Genome Center RCV002305425 SCV005044178 established risk allele Anemia, nonspherocytic hemolytic, due to G6PD deficiency 2022-12-23 criteria provided, single submitter clinical testing The inherited variants c.202G>A, p.(Val68Met) and c.376A>G, p.(Asn126Asp) exist as a haplotype commonly known as G6PD A- or A- 202A/376G. This haplotype is found at frequencies up to 0.24 in African populations and has also been described as Distrito Federal, Matera, Betica, Castilla, Alabama, Tepic, Ferrara, Laghouat and Kabyle, found in populations from around the world [PMID:12064901, 3393536, 7906668, 2572288, 10747271, 18494377, 2321910]. The G6PD A-enzyme has a Class III phenotype according to the WHO classification, conferring moderate enzyme deficiency of between 10-60% activity, and has been associated with hemolytic anemia [PMID:2633878, 12064901, 10747271]. Associations with G6PD A- and drug response have also been described (PharmGKB ID: PA166169539). Based on available evidence, this inherited A- 202A/ 376G haplotype in G6PD is classified as a Risk allele associated with hemolytic anemia.
OMIM RCV000011075 SCV000031301 pathogenic G6PD deficiency 2000-03-31 no assertion criteria provided literature only

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