ClinVar Miner

Submissions for variant NM_001360016.2(G6PD):c.679C>T (p.Arg227Trp)

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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 RCV002305769 SCV002599342 pathogenic Anemia, nonspherocytic hemolytic, due to G6PD deficiency 2022-08-12 criteria provided, single submitter curation Variant found in hemizygous brothers with deficiency, one with anemia (PP4). Mother and maternal grandfather also have variant (PP1). Decreased activity (1%) and stability in red blood cells (PS3). Affects same amino acid as pathogenic 227R>L (ClinVar ID 10387) (PM5). Below expected carrier frequency in gnomAD (PM2). Post_P 0.994 (odds of pathogenicity 1517, Prior_P 0.1).

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