ClinVar Miner

Submissions for variant NM_000402.4(G6PD):c.1246A>G (p.Lys416Glu)

dbSNP: rs137852320
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000294855 SCV000331230 pathogenic not provided 2016-01-04 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000294855 SCV000883927 pathogenic not provided 2017-12-07 criteria provided, single submitter clinical testing
Dunham Lab, University of Washington RCV002305428 SCV002599363 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). In one family, hemizygote and heterozygous maternal grandmother have history of hemolytic anemia (PP1). Decreased activity in red blood cells (1-13%) (PS3). Within dimer interface (PM1). Not found in gnomAD (PM2). Reported as pathogenic by multiple clinical testing groups (PP5). Post_P 0.999 (odds of pathogenicity 13661, Prior_P 0.1).
Invitae RCV002305428 SCV003445869 uncertain significance Anemia, nonspherocytic hemolytic, due to G6PD deficiency 2021-08-26 criteria provided, single submitter clinical testing This sequence change replaces lysine with glutamic acid at codon 386 of the G6PD protein (p.Lys386Glu). The lysine residue is weakly conserved and there is a small physicochemical difference between lysine and glutamic acid. This variant is not present in population databases (ExAC no frequency). This missense change has been observed in individual(s) with G6PD deficiency (PMID: 2602358). ClinVar contains an entry for this variant (Variation ID: 10375). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. Experimental studies have shown that this missense change affects G6PD function (PMID: 2602358). 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 RCV002305428 SCV003833787 likely pathogenic Anemia, nonspherocytic hemolytic, due to G6PD deficiency 2024-01-05 criteria provided, single submitter clinical testing
OMIM RCV000011096 SCV000031323 other G6PD IOWA 2017-05-24 no assertion criteria provided literature only
OMIM RCV000011097 SCV000031324 other G6PD IOWA CITY 2017-05-24 no assertion criteria provided literature only
OMIM RCV000011098 SCV000031325 other G6PD SPRINGFIELD 2017-05-24 no assertion criteria provided literature only
OMIM RCV000011099 SCV000031326 other G6PD WALTER REED 2017-05-24 no assertion criteria provided literature only

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