ClinVar Miner

Submissions for variant NM_001360016.2(G6PD):c.1177C>G (p.Arg393Gly)

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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 RCV002305782 SCV002599366 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 (PS3). Affects same amino acid as pathogenic 393R>H (ClinVar ID 10370) (PM5). Within dimer interface (PM1). Not found in gnomAD (PM2). Post_P 0.997 (odds of pathogenicity 3158, Prior_P 0.1).

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