ClinVar Miner

Submissions for variant NM_006516.3(SLC2A1):c.1016T>C (p.Ile339Thr) (rs141619735)

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
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000724044 SCV000232709 uncertain significance not provided 2014-07-08 criteria provided, single submitter clinical testing
GeneDx RCV000724044 SCV000243008 benign not provided 2020-01-24 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 21135204)
Genetic Services Laboratory, University of Chicago RCV000189370 SCV000248909 uncertain significance not specified 2014-12-12 criteria provided, single submitter clinical testing
Invitae RCV001079673 SCV000557624 likely benign GLUT1 deficiency syndrome 1, autosomal recessive 2020-10-28 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000515255 SCV000611522 uncertain significance Stomatin-deficient cryohydrocytosis with neurologic defects 2017-05-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV000720190 SCV000851067 uncertain significance History of neurodevelopmental disorder 2016-07-07 criteria provided, single submitter clinical testing The p.I339T variant (also known as c.1016T>C), located in coding exon 8 of the SLC2A1 gene, results from a T to C substitution at nucleotide position 1016. The isoleucine at codon 339 is replaced by threonine, an amino acid with similar properties. This variant was previously reported in the SNPDatabase as rs141619735. Based on data from the NHLBI Exome Sequencing Project (ESP), the C allele has an overall frequency of approximately 0.01% (1/13006) total alleles studied, having been observed in 0.02% (1/4406) African American alleles. This amino acid position is highly conserved through mammals but not in all available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this variant remains unclear.
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV000768319 SCV000898979 uncertain significance Stomatin-deficient cryohydrocytosis with neurologic defects; Dystonia 9; GLUT1 deficiency syndrome 1; GLUT1 deficiency syndrome 2; Epilepsy, idiopathic generalized, susceptibility to, 12 2018-04-09 criteria provided, single submitter clinical testing SLC2A1 NM_006516.2 exon 8 p.Ile339Thr (c.1016T>C): This variant has been reported in the literature in 1 individual with meningomyocele (Cormier 2011 PMID:21135204). However, this variant is present in 0.3% (127/34406) of Latino alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/rs141619735). This variant is present in ClinVar (Variation ID:198843). Evolutionary conservation and computational predictive tools for this variant are unclear. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.

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.