ClinVar Miner

Submissions for variant NM_001360016.2(G6PD):c.743G>A (p.Gly248Asp)

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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 RCV002305866 SCV002599225 likely pathogenic Anemia, nonspherocytic hemolytic, due to G6PD deficiency 2022-08-12 criteria provided, single submitter curation Variant found in hemizygote with G6PD deficiency (PP4). Decreased activity in red blood cells (PS3). Not found in gnomAD (PM2). Predicted to be damaging by SIFT, probably damaging by PolyPhen, and disease causing by Mutation Taster (PP3). Post_P 0.975 (odds of pathogenicity 350.3, Prior_P 0.1).

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