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: 6
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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).
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004525850 SCV005040394 uncertain significance not specified 2024-03-28 criteria provided, single submitter clinical testing Variant summary: G6PD c.556G>A (p.Glu186Lys) results in a conservative amino acid change located in the Glucose-6-phosphate dehydrogenase, NAD-binding domain (IPR022674) of the encoded protein sequence. Four of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 0.00027 in 183269 control chromosomes in the gnomAD database, including 1 homozygote and 18 hemizygotes. This frequency is not significantly higher than estimated for a pathogenic variant in G6PD causing Glucose 6 Phosphate Dehydrogenase Deficiency (0.00027 vs 0.29), allowing no conclusion about variant significance. c.556G>A has been reported in the literature in asymptomatic individuals affected with Glucose 6 Phosphate Dehydrogenase Deficiency (e.g. Villiamy_1988, Nafa_1994, Aggarwal_2019). These reports do not provide unequivocal conclusions about association of the variant with Glucose 6 Phosphate Dehydrogenase Deficiency. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publications have been ascertained in the context of this evaluation (PMID: 3393536, 32680472, 7959686, 31602632). ClinVar contains an entry for this variant (Variation ID: 10364). Based on the evidence outlined above, the variant was classified as uncertain significance.
OMIM RCV000011082 SCV000031309 other G6PD ILESHA 2017-05-24 no assertion criteria provided literature only

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