ClinVar Miner

Submissions for variant NM_001360016.2(G6PD):c.848A>G (p.Asp283Gly)

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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 RCV002305774 SCV002599348 pathogenic Anemia, nonspherocytic hemolytic, due to G6PD deficiency 2022-08-12 criteria provided, single submitter curation Variant found in hemizygote with deficiency, jaundice, and anemia (PP4); heterozygous sister, mother, and maternal grandmother all have decreased G6PD activity (PP1). Decreased activity in red blood cells (10%) (PS3). Affects same amino acid as pathogenic 283D>V (ClinVar ID 445710) (PM5). Not found in gnomAD (PM2). Post_P 0.994 (odds of pathogenicity 1517, Prior_P 0.1).

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