ClinVar Miner

Submissions for variant NM_001360016.2(G6PD):c.1153T>G (p.Cys385Gly)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Dunham Lab, University of Washington RCV002305780 SCV002599361 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 (13-27%) (PS3). Within dimer interface (PM1). Affects same amino acid as pathogenic 385C>R (ClinVar ID 10377) (PM5). Predicted to be pathogenic or deleterious by several in silico tools (PP3). Not found in gnomAD (PM2). Post_P 0.999 (odds of pathogenicity 6568, Prior_P 0.1).

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