ClinVar Miner

Submissions for variant NM_006516.3(SLC2A1):c.653G>A (p.Arg218His) (rs374080633)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000657887 SCV000779650 uncertain significance not provided 2018-05-17 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the SLC2A1 gene. The R218H variant has been reported previously in association with Glut1-DS (Klepper et al., 2005). However, this patient had apparently normal glucose uptake compared to controls and segregation analysis was not provided (Klepper et al., 2005). The R218H variant was subsequently reported in two siblings with Glut1-DS who also had another variant on the same allele of the SLC2A1 gene that segregated with Glut1-DS (Tzadok et al., 2014). In this family, the R218H variant was identified in multiple unaffected family members, therefore, the authors concluded that R218H was of uncertain pathogenicity (Tzadok et al., 2014). The R218H variant is observed in 12/10150 (0.1%) alleles from individuals of Ashkenazi Jewish background in large population cohorts (Lek et al., 2016). The R218H variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. In-silico analyses, including protein predictors and evolutionary conservation, support that this variant does not alter protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Invitae RCV001079315 SCV001009972 likely benign GLUT1 deficiency syndrome 1, autosomal recessive 2019-12-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001098262 SCV001254616 benign Dystonia 9 2018-01-16 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Illumina Clinical Services Laboratory,Illumina RCV001098263 SCV001254617 benign GLUT1 deficiency syndrome 1 2018-01-16 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.

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.