Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Dunham Lab, |
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 |