ClinVar Miner

Submissions for variant NM_001360016.2(G6PD):c.1138A>G (p.Ile380Val)

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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 RCV002305778 SCV002599358 pathogenic Anemia, nonspherocytic hemolytic, due to G6PD deficiency 2022-08-12 criteria provided, single submitter curation Variant found in hemizygote with deficiency and CNSHA (PP4). Heterozygous mother also has decreased G6PD activity (PP1). Decreased activity in red blood cells (PS3). Within dimer interface (PM1). Predicted to be possibly damaging or deleterious by several in silico tools (PP3). Not found in gnomAD (PM2). Post_P 0.997 (odds of pathogenicity 3155, Prior_P 0.1).

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