ClinVar Miner

Submissions for variant NM_001360016.2(G6PD):c.1330G>A (p.Val444Ile)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Dunham Lab, University of Washington RCV002305734 SCV002599282 likely pathogenic Anemia, nonspherocytic hemolytic, due to G6PD deficiency 2022-08-12 criteria provided, single submitter curation Variant found in hemizygotes with G6PD deficiency (PP4). Decreased activity in red blood cells (PS3). Below expected carrier frequency in gnomAD (PM2). Predicted to be possibly damaging by PolyPhen and disease causing by Mutation Taster (PP3). Post_P 0.975 (odds of pathogenicity 350.3, Prior_P 0.1).
Revvity Omics, Revvity RCV002305734 SCV003828415 uncertain significance Anemia, nonspherocytic hemolytic, due to G6PD deficiency 2020-03-15 criteria provided, single submitter clinical testing

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