ClinVar Miner

Submissions for variant NM_006516.3(SLC2A1):c.940G>A (p.Gly314Ser) (rs121909739)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000153967 SCV000232239 pathogenic not provided 2014-01-03 criteria provided, single submitter clinical testing
GeneDx RCV000153967 SCV000329809 pathogenic not provided 2016-09-27 criteria provided, single submitter clinical testing The G314S missense variant in the SLC2A1 gene has been reported previously to co-segregate with with paroxysmal exertion-induced dyskinesia (PED), epilepsy, developmental delay and reduced CSF glucose levels (Weber et al., 2008, Mongin et al., 2016). Functional studies demonstrate that the G314S variant results in reduced glucose uptake (Weber et al., 2008). The G314S variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The G314S variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties.
Invitae RCV000473987 SCV000545828 pathogenic GLUT1 deficiency syndrome 1, autosomal recessive 2019-05-24 criteria provided, single submitter clinical testing This sequence change replaces glycine with serine at codon 314 of the SLC2A1 protein (p.Gly314Ser). The glycine residue is highly conserved and there is a small physicochemical difference between glycine and serine. This variant is not present in population databases (ExAC no frequency). This variant has been reported in individuals affected with paroxysmal exertion-induced dyskinesias with evidence of segregate in one family (PMID: 18451999, 27351150). Mutation carriers in the previously reported family were affected with paroxysmal exertion-induced dyskinesia, epilepsy, mild mental retardation, and impulsivity (PMID: 18451999, 11076005). In addition, this variant has been reported in an individual with GLUT1 deficiency who had seizures and microcephaly (PMID: 26615598). ClinVar contains an entry for this variant (Variation ID: 16113). Experimental studies have shown that this missense change impairs glucose uptake and glucose transport kinetics when the mutant protein was expressed in xenopus oocyte model system (PMID: 18451999). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000017493 SCV000037765 pathogenic GLUT1 deficiency syndrome 2 2008-06-01 no assertion criteria provided literature only

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