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 homozygotes. 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 individuals affected with Glucose 6 Phosphate Dehydrogenase Deficiency. These report(s) 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. 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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