ClinVar Miner

Submissions for variant NM_001360016.2(G6PD):c.713A>G (p.Lys238Arg)

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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 RCV002305771 SCV002599344 pathogenic Anemia, nonspherocytic hemolytic, due to G6PD deficiency 2022-08-12 criteria provided, single submitter curation Variant found in unrelated hemizygotes with deficiency, acute anemia, and CNSHA (PS4_M, PP4). For one, variant not found in mother so assumed de novo (PM6). Decreased activity and stability in red blood cells (10-18%) and decreased specific activity in E. coli (20%) (PS3). Not found in gnomAD (PM2). Post_P 0.997 (odds of pathogenicity 3158, Prior_P 0.1).

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