ClinVar Miner

Submissions for variant NM_006516.3(SLC2A1):c.988C>T (p.Arg330Ter)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 8
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000189360 SCV000242997 pathogenic not provided 2020-01-16 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 32371413, 29655203, 10980529, 20129935, 26193382, 26216499, 25525159)
Invitae RCV000461498 SCV000545826 pathogenic GLUT1 deficiency syndrome 1, autosomal recessive 2020-06-26 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 330 (p.Arg330*) of the SLC2A1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SLC2A1 are known to be pathogenic. This particular variant has been reported in the literature in individuals affected with Glut-1 Deficiency Syndrome (PMID: 10980529, 26216499, 20129935). For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics RCV000622452 SCV000741549 pathogenic Inborn genetic diseases 2016-06-29 criteria provided, single submitter clinical testing
Baylor Genetics RCV000679880 SCV000807266 pathogenic GLUT1 deficiency syndrome 1 2017-09-01 criteria provided, single submitter clinical testing This variant has been previously reported as disease-causing and was found once in our laboratory in a 13-year-old female with intellectual disability with regression, microcephaly, cryptogenic generalized epilepsy, static encephalopathy
Génétique des Maladies du Développement, Hospices Civils de Lyon RCV001004692 SCV001164153 pathogenic GLUT1 deficiency syndrome 2 2017-07-11 criteria provided, single submitter clinical testing
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital RCV001249688 SCV001423684 pathogenic Stomatin-deficient cryohydrocytosis with neurologic defects; Dystonia 9; GLUT1 deficiency syndrome 1; GLUT1 deficiency syndrome 2 2017-12-15 criteria provided, single submitter clinical testing [ACMG/AMP: PVS1, PS2, PM2, PP3, PP5] This alteration is a null variant in a gene where LOF is a known mechanism of disease [PVS1], is de novo in origin as it was not detected in the submitted parental specimens (identity confirmed) [PS2], is absent from or rarely observed in large-scale population databases [PM2], is predicted to be damaging by multiple functional prediction tools [PP3], was reported as a pathogenic/likely pathogenic alteration by a reputable source (ClinVar or other correspondence from a clinical testing laboratory) [PP5].
CeGaT Praxis fuer Humangenetik Tuebingen RCV000189360 SCV001500364 pathogenic not provided 2020-10-01 criteria provided, single submitter clinical testing
Laboratory of Molecular Genetics,CHU RENNES RCV000415466 SCV000493100 likely pathogenic Epilepsy; Microcephaly; intellectual deficiency no assertion criteria provided 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.