ClinVar Miner

Submissions for variant NM_006516.4(SLC2A1):c.1131CTT[1] (p.Phe379del)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002927716 SCV003263687 uncertain significance GLUT1 deficiency syndrome 1, autosomal recessive 2022-03-26 criteria provided, single submitter clinical testing This variant, c.1134_1136del, results in the deletion of 1 amino acid(s) of the SLC2A1 protein (p.Phe379del), but otherwise preserves the integrity of the reading frame. 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has been observed in individual(s) with glucose transporter type 1 deficiency syndrome (PMID: 23106342, 26336901). This variant is not present in population databases (gnomAD no frequency).
GeneDx RCV003228107 SCV003924639 pathogenic not provided 2023-05-11 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports a deleterious effect on protein structure/function; In-frame deletion of 1 amino acids in a non-repeat region; Identified in an individual with early onset absence epilepsy in published literature (Arsov et al., 2012); This variant is associated with the following publications: (PMID: 23106342, 26336901)

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.