ClinVar Miner

Submissions for variant NM_001360016.2(G6PD):c.1288-2A>T

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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 RCV002305795 SCV002599385 pathogenic Anemia, nonspherocytic hemolytic, due to G6PD deficiency 2022-08-12 criteria provided, single submitter curation Variant found in hemizygote with deficiency and anemia (PP4). Decreased activity in red blood cells (5%) (PS3). Mutation of canonical AG 3' acceptor splice site (PVS1) leads to deletion of three amino acids (PM4). Not found in gnomAD (PM2). Post_P 0.99996 (odds of pathogenicity 255240, Prior_P 0.1).

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