ClinVar Miner

Submissions for variant NM_001360016.2(G6PD):c.1376del (p.Arg459fs)

dbSNP: rs2070346743
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001812431 SCV001471886 pathogenic not provided 2020-03-23 criteria provided, single submitter clinical testing The G6PD c.1376delG; p.Arg459fs variant, to our knowledge, is not reported in the medical literature or gene specific databases. This variant is also absent from general population databases (Exome Variant Server, Genome Aggregation Database), indicating it is not a common polymorphism. This variant causes a frameshift by deleting a single nucleotide, so it is predicted to result in a truncated protein or mRNA subject to nonsense-mediated decay. Large insertions/deletions, frameshift, and nonsense variants are not described in males for G6PD, consistent with the notion that a total lack of G6PD activity would be lethal (Vulliamy 1993). Therefore, the c.1376delG; p.Arg459fs variant is considered to be pathogenic. REFERENCES Vulliamy T et al. Variants of glucose-6-phosphate dehydrogenase are due to missense mutations spread throughout the coding region of the gene. Hum Mutat. 1993;2(3):159-67.
Dunham Lab, University of Washington RCV002305589 SCV002599393 pathogenic Anemia, nonspherocytic hemolytic, due to G6PD deficiency 2022-08-12 criteria provided, single submitter curation Leads to frameshift that introduces a stop codon at residue 495 (PVS1). Not found in gnomAD (PM2). Reported as pathogenic by ARUP Laboratories (PP5). Post_P 0.997 (odds of pathogenicity 3152, Prior_P 0.1).

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