ClinVar Miner

Submissions for variant NM_001360016.2(G6PD):c.242G>A (p.Arg81His)

gnomAD frequency: 0.00001  dbSNP: rs782308266
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002017043 SCV002305160 uncertain significance Anemia, nonspherocytic hemolytic, due to G6PD deficiency 2022-04-17 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 81 of the G6PD protein (p.Arg81His). This variant is present in population databases (rs782308266, gnomAD 0.001%). This missense change has been observed in individual(s) with glucose-6-phosphate dehydrogenase deficiency (PMID: 8370579). This variant is also known as G6PD Lagosanto. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt G6PD protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Mendelics RCV002017043 SCV002516423 pathogenic Anemia, nonspherocytic hemolytic, due to G6PD deficiency 2022-05-04 criteria provided, single submitter clinical testing
Dunham Lab, University of Washington RCV002017043 SCV002599175 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 hemolysis after ingestion of oxidizing drug (PP4). Decreased activity in red blood cells of hemizygote (45%) (PS3). Modeling predicts disruption of function (PP3). Below expected carrier frequency in gnomAD (PM2). Post_P 0.975 (odds of pathogenicity 350.3, Prior_P 0.1).

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