ClinVar Miner

Submissions for variant NM_001360016.2(G6PD):c.562TCC[1] (p.Ser189del)

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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 RCV002305768 SCV002599338 pathogenic Anemia, nonspherocytic hemolytic, due to G6PD deficiency 2022-08-12 criteria provided, single submitter curation Variant found in hemizygotes with deficiency and CNSHA, including two brothers (PP1, PP4). Decreased activity in red blood cells (PS3). Leads to deletion of one amino acid (PM4). Not found in gnomAD (PM2). Not found in gnomAD (PM2). Post_P 0.994 (odds of pathogenicity 1517, Prior_P 0.1).

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