ClinVar Miner

Submissions for variant NM_000402.4(G6PD):c.262G>A (p.Asp88Asn)

dbSNP: rs137852315
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Dunham Lab, University of Washington RCV002305426 SCV002599319 pathogenic Anemia, nonspherocytic hemolytic, due to G6PD deficiency 2022-08-12 criteria provided, single submitter curation Variant found in unrelated hemizygotes with deficiency (PP4, PS4_M). Phenotype transmits with phenotype from mother to son (PP1). Decreased activity in red blood cells (12-39%) (PS3). Not found in gnomAD (PM2). Post_P 0.994 (odds of pathogenicity 1517, Prior_P 0.1).
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004700215 SCV005205478 uncertain significance not specified 2024-06-25 criteria provided, single submitter clinical testing Variant summary: G6PD c.262G>A (p.Asp88Asn), which is also described as G6PD Metaponto, results in a conservative amino acid change in the encoded protein sequence. Three of four in-silico tools predict a damaging effect of the variant on protein function. The variant was absent in 183372 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.262G>A has been reported in the literature in asymptomatic hemizygous individuals affected with Glucose 6 Phosphate Dehydrogenase Deficiency (e.g. Vulliamy_1988, Calabro_1990). These report(s) do not provide unequivocal conclusions about association of the variant with Glucose 6 Phosphate Dehydrogenase Deficiency. At least one publication reports experimental evidence evaluating an impact on protein function. The most pronounced variant effect results in >50% of normal enzyme activity (Loges_2021). The following publications have been ascertained in the context of this evaluation (PMID: 2253938, 34532700, 3393536). ClinVar contains an entry for this variant (Variation ID: 10369). Based on the evidence outlined above, the variant was classified as uncertain significance.
OMIM RCV000011089 SCV000031316 other G6PD METAPONTO 2017-05-24 no assertion criteria provided literature only

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