ClinVar Miner

Submissions for variant NM_001360016.2(G6PD):c.1330G>A (p.Val444Ile)

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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 RCV002305734 SCV002599282 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 (PS3). Below expected carrier frequency in gnomAD (PM2). Predicted to be possibly damaging by PolyPhen and disease causing by Mutation Taster (PP3). Post_P 0.975 (odds of pathogenicity 350.3, Prior_P 0.1).
Revvity Omics, Revvity RCV002305734 SCV003828415 uncertain significance Anemia, nonspherocytic hemolytic, due to G6PD deficiency 2020-03-15 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV005058252 SCV005726354 uncertain significance not specified 2024-11-13 criteria provided, single submitter clinical testing Variant summary: G6PD c.1420G>A (p.Val474Ile) results in a conservative amino acid change located in the Glucose-6-phosphate dehydrogenase, C-terminal domain (IPR022675) of the encoded protein sequence. Three of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 5.5e-06 in 182321 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.1420G>A has been reported in the literature in individuals affected with Glucose 6 Phosphate Dehydrogenase Deficiency (Chiu_2019, Geck_2023). 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: 31294066, 36681081, 32702756, 35845714). ClinVar contains an entry for this variant (Variation ID: 1722624). Based on the evidence outlined above, the variant was classified as uncertain significance.

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