ClinVar Miner

Submissions for variant NM_000402.4(G6PD):c.1318G>T (p.Gly440Cys)

dbSNP: rs137852323
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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 RCV002305430 SCV002599379 pathogenic Anemia, nonspherocytic hemolytic, due to G6PD deficiency 2022-08-12 criteria provided, single submitter curation Variant found in hemizygote with deficiency and CNSHA (PP4). Decreased activity in red blood cells (1%) (PS3). Affects same amino acid as pathogenic 410G>D (ClinVar ID 10398) (PM5). Within dimer interface (PM1). Predicted by PolyPhen and SIFT to be probably damaging and deleterious (PP3). Not found in gnomAD (PM2). Post_P 0.997 (odds of pathogenicity 3158, Prior_P 0.1).
Revvity Omics, Revvity RCV002305430 SCV004238194 likely pathogenic Anemia, nonspherocytic hemolytic, due to G6PD deficiency 2023-08-14 criteria provided, single submitter clinical testing
OMIM RCV000011102 SCV000031329 other G6PD RIVERSIDE 2013-04-18 no assertion criteria provided literature only

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