ClinVar Miner

Submissions for variant NM_006516.4(SLC2A1):c.988C>T (p.Arg330Ter)

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Total submissions: 9
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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
PerkinElmer Genomics RCV000189360 SCV002020696 pathogenic not provided 2019-09-04 no assertion criteria provided clinical testing

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