ClinVar Miner

Submissions for variant NM_006516.3(SLC2A1):c.274C>A (p.Arg92=) (rs202060209)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000400449 SCV000357709 benign Dystonia 9 2018-03-06 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Illumina Clinical Services Laboratory,Illumina RCV000722005 SCV000357710 benign GLUT1 deficiency syndrome 1 2018-03-06 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000732647 SCV000860623 uncertain significance not provided 2018-04-20 criteria provided, single submitter clinical testing
Invitae RCV001364077 SCV001560209 uncertain significance GLUT1 deficiency syndrome 1, autosomal recessive 2020-10-16 criteria provided, single submitter clinical testing This sequence change affects codon 92 of the SLC2A1 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the SLC2A1 protein. This variant is present in population databases (rs202060209, ExAC 0.02%). This variant has not been reported in the literature in individuals with SLC2A1-related conditions. ClinVar contains an entry for this variant (Variation ID: 207181). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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.
SingHealth Duke-NUS Institute of Precision Medicine RCV000722005 SCV000853174 uncertain significance GLUT1 deficiency syndrome 1 2017-06-07 no assertion criteria provided curation

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.