ClinVar Miner

Submissions for variant NM_001360016.2(G6PD):c.691G>A (p.Ala231Thr)

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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 RCV004699743 SCV005203907 likely pathogenic Anemia, nonspherocytic hemolytic, due to G6PD deficiency 2024-09-01 criteria provided, single submitter curation Reported in patient with deficiency (PP4). Decreased activity reported in RBCs (PS3). Not found in gnomAD (PM2). Predicted to be disease-causing by Mutation Taster, probably damaging by PolyPhen-2, and deleterious by SIFT; site is highly conserved amongst mammals (PP3). Post_P 0.975 (odds of pathogenicity 350.3, Prior_P 0.1).

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