ClinVar Miner

Submissions for variant NM_001360016.2(G6PD):c.383T>G (p.Leu128Arg)

dbSNP: rs78365220
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001244181 SCV001417384 pathogenic Anemia, nonspherocytic hemolytic, due to G6PD deficiency 2024-10-30 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 128 of the G6PD protein (p.Leu128Arg). This variant is present in population databases (no rsID available, gnomAD no frequency). This missense change has been observed in individuals with glucose-6-phosphate dehydrogenase deficiency (PMID: 19422023, 19632868). ClinVar contains an entry for this variant (Variation ID: 968939). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is expected to disrupt G6PD protein function with a positive predictive value of 95%. This variant disrupts the p.Leu128 amino acid residue in G6PD. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 7825590, 11499668, 12215013, 27213370). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.
Revvity Omics, Revvity RCV001244181 SCV002025184 likely pathogenic Anemia, nonspherocytic hemolytic, due to G6PD deficiency 2021-05-11 criteria provided, single submitter clinical testing
Dunham Lab, University of Washington RCV001244181 SCV002599328 pathogenic Anemia, nonspherocytic hemolytic, due to G6PD deficiency 2022-08-12 criteria provided, single submitter curation Variant found in two unrelated hemizygotes with deficiency (PS4_M, PP4). Decreased activity in red blood cells (27-61%) (PS3). Both heterozygous mothers also have decreased G6PD activity (PP1). Affects same amino acid as pathogenic 128L>P (ClinVar ID 93499) (PM5). Modeling predicts that the variant disrupts function (PP3). Not found in gnomAD (PM2). Post_P 0.999 (odds of pathogenicity 13661, Prior_P 0.1).
CeGaT Center for Human Genetics Tuebingen RCV003222271 SCV003917835 likely pathogenic not provided 2023-03-01 criteria provided, single submitter clinical testing G6PD: PM2, PM5, PS4:Moderate, PS3:Supporting
Baylor Genetics RCV003462821 SCV004195398 likely pathogenic Malaria, susceptibility to 2023-08-07 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005040088 SCV005683132 likely pathogenic Malaria, susceptibility to; Anemia, nonspherocytic hemolytic, due to G6PD deficiency 2024-03-16 criteria provided, single submitter clinical testing

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