ClinVar Miner

Submissions for variant NM_001164277.2(SLC37A4):c.761A>G (p.Glu254Gly)

gnomAD frequency: 0.00001  dbSNP: rs781834348
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001240612 SCV001413577 uncertain significance Glucose-6-phosphate transport defect 2019-04-03 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with glycine at codon 254 of the SLC37A4 protein (p.Glu254Gly). The glutamic acid residue is highly conserved and there is a moderate physicochemical difference between glutamic acid and glycine. This variant is present in population databases (rs781834348, ExAC 0.003%). This variant has not been reported in the literature in individuals with SLC37A4-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C15"). 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.
Fulgent Genetics, Fulgent Genetics RCV002484317 SCV002777027 uncertain significance Phosphate transport defect; Glucose-6-phosphate transport defect; Congenital disorder of glycosylation, type IIw 2022-01-12 criteria provided, single submitter clinical testing
Natera, Inc. RCV001240612 SCV002078740 uncertain significance Glucose-6-phosphate transport defect 2020-04-28 no assertion criteria provided clinical testing

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.