ClinVar Miner

Submissions for variant NM_001360016.2(G6PD):c.536G>A (p.Ser179Asn)

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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 RCV002305767 SCV002599335 pathogenic Anemia, nonspherocytic hemolytic, due to G6PD deficiency 2022-08-12 criteria provided, single submitter curation Variant found in unrelated individuals with deficiency and anemia (PS4_M, PP4). Decreased activity in red blood cells of heterozygote (20-60%) (PS3). Predicted to lead to decreased NADP binding and be damaging by SIFT, probably damaging by PolyPhen (PP3). Not found in gnomAD (PM2). Post_P 0.994 (odds of pathogenicity 1517, Prior_P 0.1).

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