ClinVar Miner

Submissions for variant NM_000402.4(G6PD):c.1406G>C (p.Arg469Pro)

dbSNP: rs137852337
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000723442 SCV000700390 pathogenic not provided 2017-01-06 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000723442 SCV000883926 likely pathogenic not provided 2017-07-23 criteria provided, single submitter clinical testing
Dunham Lab, University of Washington RCV000011139 SCV002599281 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 CNSHA (PP4). Decreased activity in red blood cells (7%) (PS3). Not found in gnomAD (PM2). Reported as pathogenic by clinical testing group (PP5). Post_P 0.975 (odds of pathogenicity 350.3, Prior_P 0.1).
Labcorp Genetics (formerly Invitae), Labcorp RCV000011139 SCV003251382 uncertain significance Anemia, nonspherocytic hemolytic, due to G6PD deficiency 2022-09-30 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with proline, which is neutral and non-polar, at codon 439 of the G6PD protein (p.Arg439Pro). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with clinical features of G6PD defiency (PMID: 1611091). This variant is also known as the Pawnee variant. ClinVar contains an entry for this variant (Variation ID: 10399). 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.
Revvity Omics, Revvity RCV000011139 SCV003833843 likely pathogenic Anemia, nonspherocytic hemolytic, due to G6PD deficiency 2022-03-23 criteria provided, single submitter clinical testing
GeneDx RCV000723442 SCV005201600 uncertain significance not provided 2023-11-14 criteria provided, single submitter clinical testing Identified in individuals with features of G6PD deficiency and described as the Pawnee variant (PMID: 1611091); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 30206300, 2190319, 22293322, 1611091)
OMIM RCV000011138 SCV000031365 other G6PD PAWNEE 2024-10-11 no assertion criteria provided literature only
OMIM RCV000011139 SCV005374540 pathogenic Anemia, nonspherocytic hemolytic, due to G6PD deficiency 2024-10-11 no assertion criteria provided literature only

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