ClinVar Miner

Submissions for variant NM_000402.4(G6PD):c.1250G>A (p.Arg417His)

dbSNP: rs137852321
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001857328 SCV002146487 pathogenic Anemia, nonspherocytic hemolytic, due to G6PD deficiency 2021-05-16 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts the p.Arg387 amino acid residue in G6PD. Other variant(s) that disrupt this residue have been observed in individuals with G6PD-related conditions (PMID: 1611091), which suggests that this may be a clinically significant amino acid residue. 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. This variant has been observed in individual(s) with G6PD deficiency (PMID: 2602358, 12187030, 29248304, Invitae). ClinVar contains an entry for this variant (Variation ID: 10376). This variant is not present in population databases (ExAC no frequency). This sequence change replaces arginine with histidine at codon 387 of the G6PD protein (p.Arg387His). The arginine residue is moderately conserved and there is a small physicochemical difference between arginine and histidine.
Dunham Lab, University of Washington RCV001857328 SCV002599365 pathogenic Anemia, nonspherocytic hemolytic, due to G6PD deficiency 2022-08-12 criteria provided, single submitter curation Variant found in unrelated hemizygotes with deficiency and CNSHA (PS4_M, PP4). Decreased activity in red blood cells (0-4%) (PS3). Within dimer interface (PM1). Predicted to be damaging or deleterious by multiple computational algorithms (PP3). Not found in gnomAD (PM2). Reported as pathogenic by Invitae (PP5). Post_P 0.999 (odds of pathogenicity 13661, Prior_P 0.1).
Baylor Genetics RCV003466848 SCV004195412 pathogenic Malaria, susceptibility to 2022-07-09 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001857328 SCV004236210 pathogenic Anemia, nonspherocytic hemolytic, due to G6PD deficiency 2023-03-01 criteria provided, single submitter clinical testing
OMIM RCV000011100 SCV000031327 other G6PD BEVERLY HILLS 2013-04-18 no assertion criteria provided literature only

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