ClinVar Miner

Submissions for variant NM_006516.3(SLC2A1):c.376C>T (p.Arg126Cys) (rs80359818)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000081431 SCV000230326 pathogenic not provided 2013-06-11 criteria provided, single submitter clinical testing
GeneDx RCV000081431 SCV000242987 pathogenic not provided 2016-02-08 criteria provided, single submitter clinical testing p.Arg126Cys (CGC>TGC): c.376 C>T in exon 4 of the SLC2A1 gene (NM_006516.2)The Arg126Cys missense mutation has been identified in multiple patients with glucose transporter type 1 deficiency syndrome (Pascual et al., 2002; Zorzi et al., 2008; Suls et al., 2009; Leen et al., 2010; Gokben et al., 2011). Functional studies indicate this mutation significantly impairs glucose transport (Wong et al., 2007; Suls et al., 2009).
Invitae RCV000546969 SCV000649804 pathogenic GLUT1 deficiency syndrome 1, autosomal recessive 2017-01-20 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 126 of the SLC2A1 protein (p.Arg126Cys). The arginine residue is highly conserved and there is a large physicochemical difference between arginine and cysteine. This variant is not present in population databases (ExAC no frequency). This variant has been reported in multiple individuals affected with GLUT1-deficiency syndrome (PMID: 21546317, 17718830, 26193382) Experimental studies in Xenopus and Chinese hamster oocytes have shown that this variant decreases the glucose transport activity of the GLUT1 protein, encoded by the SLC2A1 gene (PMID: 19798636, 17052934) For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV000017498 SCV000807597 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 de novo in a 3-year-old female with static encephalopathy, developmental delay, hypotonia, seizures
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV000824987 SCV000966167 likely pathogenic Stomatin-deficient cryohydrocytosis with neurologic defects 2018-10-19 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Leipzig Medical Center RCV000824987 SCV001440847 pathogenic Stomatin-deficient cryohydrocytosis with neurologic defects 2019-01-01 criteria provided, single submitter clinical testing
OMIM RCV000017498 SCV000037770 pathogenic GLUT1 deficiency syndrome 1 2011-09-06 no assertion criteria provided literature only
OMIM RCV000030838 SCV000053513 pathogenic GLUT1 deficiency syndrome 2 2011-09-06 no assertion criteria provided literature only
OMIM RCV000030839 SCV000053514 pathogenic Dystonia 9 2011-09-06 no assertion criteria provided literature only
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille RCV000017498 SCV001738760 pathogenic GLUT1 deficiency syndrome 1 2020-01-01 no assertion criteria provided clinical testing

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