ClinVar Miner

Submissions for variant NM_001360016.2(G6PD):c.442G>A (p.Glu148Lys)

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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 RCV002305835 SCV002599187 likely pathogenic Anemia, nonspherocytic hemolytic, due to G6PD deficiency 2022-08-12 criteria provided, single submitter curation Variant found in three unrelated heterozygotes with G6PD deficiency (PP4, PS4_M). Decreased activity in red blood cells of heterozygotes (PS3). Below expected carrier frequency in gnomAD (PM2). Post_P 0.988 (odds of pathogenicity 729.3, Prior_P 0.1).

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