ClinVar Miner

Submissions for variant NM_000402.4(G6PD):c.1039G>A (p.Glu347Lys) (rs137852339)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000800624 SCV000940353 pathogenic Anemia, nonspherocytic hemolytic, due to G6PD deficiency 2019-12-14 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with lysine at codon 317 of the G6PD protein (p.Glu317Lys). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and lysine. This variant is present in population databases (rs137852339, ExAC 1.2%). This variant is a prevalent G6PD variant in the South Asian population, typically associated with partial reduction of enzyme activity (PMID: 1303182, 30097005, 16528451, 15315792, 30097005, 27880809, 27535533). By WHO classification, this is a Class III variant associated with moderate G6PD deficiency (10-60% enzyme activity) and hemolysis with stressors only (PMID: 22293322). This variant is also known as G6PD Kerala, G6PD Kalyan, G6PD Kerala Kalyan, G6PD Jamnaga, and G6PD Rohini in the literature. ClinVar contains an entry for this variant (Variation ID: 10401). 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, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. For these reasons, this variant has been classified as Pathogenic.
Mendelics RCV000800624 SCV001142106 uncertain significance Anemia, nonspherocytic hemolytic, due to G6PD deficiency 2019-05-28 criteria provided, single submitter clinical testing
OMIM RCV000011142 SCV000031369 other G6PD KERALA-KALYAN 2013-04-18 no assertion criteria provided literature only
OMIM RCV000011143 SCV000031370 other G6PD KERALA 2013-04-18 no assertion criteria provided literature only
OMIM RCV000011144 SCV000031371 other G6PD KALYAN 2013-04-18 no assertion criteria provided literature only

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.