ClinVar Miner

Submissions for variant NM_001360016.2(G6PD):c.1340G>T (p.Gly447Val)

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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 RCV002305735 SCV002599283 likely pathogenic Anemia, nonspherocytic hemolytic, due to G6PD deficiency 2022-08-12 criteria provided, single submitter curation Variant found in hemizygote and heterozygote with G6PD deficiency (PP4). Decreased actvity in red blood cells (PS3). Affects same residue as pathogenic variant (ClinVar ID 10371) (PM5). Not found in gnomAD (PM2). Post_P 0.988 (odds of pathogenicity 729.3, Prior_P 0.1).

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