ClinVar Miner

Submissions for variant NM_006516.4(SLC2A1):c.400G>A (p.Gly134Ser)

dbSNP: rs1057518953
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV000415325 SCV000493009 likely pathogenic Paroxysmal dystonia 2014-01-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000458446 SCV000545837 pathogenic GLUT1 deficiency syndrome 1, autosomal recessive 2023-01-27 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt SLC2A1 protein function. ClinVar contains an entry for this variant (Variation ID: 374181). This missense change has been observed in individual(s) with glucose transporter deficiency syndrome type I (GLUT1) (Invitae; https://juniperpublishers.com/gjidd/GJIDD.MS.ID.555588.php). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 134 of the SLC2A1 protein (p.Gly134Ser).
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV003321586 SCV004025985 likely pathogenic not provided 2022-03-15 criteria provided, single submitter clinical testing PM1, PM2_SUP, PM5_SUP
GeneDx RCV003321586 SCV004168904 likely pathogenic not provided 2023-11-01 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 34992632, 29303961, 29655203, Lukyanova2017[article])
Genome-Nilou Lab RCV003445924 SCV004173468 likely pathogenic Encephalopathy due to GLUT1 deficiency 2023-04-11 criteria provided, single submitter clinical testing

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