ClinVar Miner

Submissions for variant NM_000402.4(G6PD):c.1429G>A (p.Gly477Arg)

dbSNP: rs137852317
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000790772 SCV000225262 pathogenic not provided 2013-10-18 criteria provided, single submitter clinical testing
Dunham Lab, University of Washington RCV000066233 SCV002599389 pathogenic Anemia, nonspherocytic hemolytic, due to G6PD deficiency 2022-08-12 criteria provided, single submitter curation Variant found in unrelated hemizygotes with deficiency and jaundice, acute anemia, and CNSHA (PS4_M, PP4). In one family, variant segregates with deficiency (PP1). In another, hemizygote with CNSHA does not have variant, so assumed de novo (PM6). Decreased activity in red blood cells of hemizygotes (1-5%) (PS3). Not found in gnomAD (PM2). Reported as pathogenic by Eurofins (PP5). Post_P 0.999 (odds of pathogenicity 13661, Prior_P 0.1).
Fulgent Genetics, Fulgent Genetics RCV002496322 SCV002813982 likely pathogenic Malaria, susceptibility to; Anemia, nonspherocytic hemolytic, due to G6PD deficiency 2022-05-03 criteria provided, single submitter clinical testing
OMIM RCV000011091 SCV000031318 other G6PD SANTIAGO DE CUBA 1989-07-25 no assertion criteria provided literature only
OMIM RCV000066233 SCV005374536 pathogenic Anemia, nonspherocytic hemolytic, due to G6PD deficiency 1989-07-25 no assertion criteria provided literature only

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