ClinVar Miner

Submissions for variant NM_001360016.2(G6PD):c.1466C>T (p.Pro489Leu)

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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 RCV002305799 SCV002599400 pathogenic Anemia, nonspherocytic hemolytic, due to G6PD deficiency 2022-08-12 criteria provided, single submitter curation Variant found in hemizygote with deficiency with CNSHA (PP4). Severely deficieny activity (PS3). Within NADP structural site (PM1). Affects same amino acid as pathogenic 489P>S (ClinVar ID 811096) (PM5). Not found in gnomAD (PM2). Post_P 0.997 (odds of pathogenicity 3158, Prior_P 0.1).

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