ClinVar Miner

Submissions for variant NM_006516.4(SLC2A1):c.985G>A (p.Glu329Lys)

dbSNP: rs2124448063
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
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris RCV001647141 SCV001519202 pathogenic Encephalopathy due to GLUT1 deficiency 2021-01-04 criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV001376893 SCV001574079 likely pathogenic GLUT1 deficiency syndrome 1, autosomal recessive 2020-09-25 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. This variant disrupts the p.Glu329 amino acid residue in SLC2A1. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 20129935, 23448551). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. 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 SLC2A1 protein function. This variant has not been reported in the literature in individuals with SLC2A1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces glutamic acid with lysine at codon 329 of the SLC2A1 protein (p.Glu329Lys). The glutamic acid residue is moderately conserved and there is a small physicochemical difference between glutamic acid and lysine.
GeneDx RCV001773659 SCV002003446 uncertain significance not provided 2020-10-19 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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.