ClinVar Miner

Submissions for variant NM_000402.4(G6PD):c.556G>A (p.Glu186Lys)

gnomAD frequency: 0.00016  dbSNP: rs137852313
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000991017 SCV001020143 likely benign Anemia, nonspherocytic hemolytic, due to G6PD deficiency 2023-12-28 criteria provided, single submitter clinical testing
Mendelics RCV000991017 SCV001142111 uncertain significance Anemia, nonspherocytic hemolytic, due to G6PD deficiency 2019-05-28 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV002227031 SCV002506263 uncertain significance not provided 2022-02-24 criteria provided, single submitter clinical testing
Dunham Lab, University of Washington RCV000991017 SCV002599191 likely pathogenic Anemia, nonspherocytic hemolytic, due to G6PD deficiency 2022-08-12 criteria provided, single submitter curation Variant found in hemizygotes with G6PD deficiency (PP4). Decreased activity in red blood cells of hemizygotes (21-25%) (PS3). Below expected carrier frequency in gnomAD (PM2). Post_P 0.949 (odds of pathogenicity 168.4, Prior_P 0.1).
OMIM RCV000011082 SCV000031309 other G6PD ILESHA 2017-05-24 no assertion criteria provided literature only

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