ClinVar Miner

Submissions for variant NM_000402.4(G6PD):c.683G>C (p.Arg228Pro)

dbSNP: rs137852332
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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 RCV000011130 SCV002599210 likely pathogenic Anemia, nonspherocytic hemolytic, due to G6PD deficiency 2022-08-12 criteria provided, single submitter curation Variant found in hemizygote with G6PD deficiency and CNSHA (PP4). Undetectable activity in red blood cells of hemizygote and when expressed in S. cerevisiae (PS3). Not observed in gnomAD (PM2). Alters substrate binding site (PM1). Post_P 0.988 (odds of pathogenicity 729.3, Prior_P 0.1).
OMIM RCV000011129 SCV000031356 other G6PD SANTIAGO 2024-10-11 no assertion criteria provided literature only
OMIM RCV000011130 SCV005374534 pathogenic Anemia, nonspherocytic hemolytic, due to G6PD deficiency 2024-10-11 no assertion criteria provided literature only

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