ClinVar Miner

Submissions for variant NM_001360016.2(G6PD):c.1375C>G (p.Arg459Gly)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Dunham Lab, University of Washington RCV002305744 SCV002599293 likely pathogenic Anemia, nonspherocytic hemolytic, due to G6PD deficiency 2022-08-12 criteria provided, single submitter curation Variant found in hemizygote with G6PD deficiency and severe hyperbilirubinemia (PP4). Heterozygous mother also has deficiency (PP1). Decreased actvity in red blood cells (17-28%) (PS3). Not found in gnomAD (PM2). Post_P 0.975 (odds of pathogenicity 350.3, Prior_P 0.1).
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003317590 SCV004020599 likely pathogenic G6PD deficiency 2023-06-28 criteria provided, single submitter clinical testing Variant summary: G6PD c.1465C>G (p.Arg489Gly) results in a non-conservative amino acid change in the encoded protein sequence. Other pathogenic variants located at this codon (p.Arg489Pro and p.Arg489Leu) have been reported as fully concordant pathogenic variants in the ClinVar database, supporting the critical relevance of this amino acid residue to protein function. Three of five in-silico tools predict a damaging effect of the variant on protein function. The variant was absent in 181938 control chromosomes. c.1465C>G has been reported in the literature in at least two individuals (mother and son from a single family) affected with Glucose 6 Phosphate Dehydrogenase Deficiency (e.g., Bahr_2020). These data indicate that the variant may be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publication has been ascertained in the context of this evaluation (PMID: 32987391). One submitter has cited clinical-significance assessments for this variant to ClinVar after 2014 and has classified the variant as likely pathogenic. Based on the evidence outlined above, the variant was classified as likely pathogenic.

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