ClinVar Miner

Submissions for variant NM_001360016.2(G6PD):c.1225C>T (p.Pro409Ser)

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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 RCV002305788 SCV002599376 pathogenic Anemia, nonspherocytic hemolytic, due to G6PD deficiency 2022-08-12 criteria provided, single submitter curation Variant found in unrelated hemizygotes with deficiency and CNSHA (PS4_M, PP4). For one, inherited from heterozygous mother (PP1); for another, variant not detected in mother so assumed de novo (PM6). Decreased activity in red blood cells (PS3). Within dimer interface (PM1). Not found in gnomAD (PM2). Post_P 0.999 (odds of pathogenicity 13661, Prior_P 0.1).

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