ClinVar Miner

Submissions for variant NM_006516.4(SLC2A1):c.121G>A (p.Glu41Lys)

dbSNP: rs769722007
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 7
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001908714 SCV002176139 uncertain significance GLUT1 deficiency syndrome 1, autosomal recessive 2023-03-13 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1402777). This missense change has been observed in individual(s) with autosomal dominant GLUT1-deficiency syndrome (PMID: 22011817). This variant is present in population databases (rs769722007, gnomAD 0.0009%). This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 41 of the SLC2A1 protein (p.Glu41Lys). Advanced modeling performed at Invitae incorporating data from internal and/or published experimental studies (Invitae) did not meet the statistical confidence thresholds required to predict the impact of this variant on SLC2A1 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.
PreventionGenetics, part of Exact Sciences RCV004552094 SCV004109253 uncertain significance SLC2A1-related disorder 2022-12-15 criteria provided, single submitter clinical testing The SLC2A1 c.121G>A variant is predicted to result in the amino acid substitution p.Glu41Lys. This variant has been reported in a single individual with glucose transporter type 1 deficiency syndrome (Hashimoto et al 2011. PubMed ID: 22011817). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Genome-Nilou Lab RCV003446945 SCV004173944 uncertain significance Epilepsy, idiopathic generalized, susceptibility to, 12 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003446944 SCV004173945 uncertain significance Dystonia 9 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003446942 SCV004173946 uncertain significance Encephalopathy due to GLUT1 deficiency 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003446943 SCV004173947 uncertain significance Childhood onset GLUT1 deficiency syndrome 2 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003446946 SCV004173948 uncertain significance Hereditary cryohydrocytosis with reduced stomatin 2023-04-11 criteria provided, single submitter 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.