Total submissions: 11
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000153967 | SCV000232239 | pathogenic | not provided | 2014-01-03 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000153967 | SCV000329809 | pathogenic | not provided | 2022-02-28 | criteria provided, single submitter | clinical testing | Published functional studies demonstrate reduced glucose uptake (Weber et al., 2008); Not observed in large population cohorts (gnomAD); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 20574033, 27781031, 26615598, 18451999, 26986070, 21791420, 20507906, 25022942, 27351150, 26536893, 27128978, 26821218, 24847886, 11076005, 30895386, 31302675, 33584489) |
Labcorp Genetics |
RCV000473987 | SCV000545828 | pathogenic | GLUT1 deficiency syndrome 1, autosomal recessive | 2024-03-28 | criteria provided, single submitter | clinical testing | This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 314 of the SLC2A1 protein (p.Gly314Ser). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with epilepsy, mild mental retardation, and impulsivity and/or paroxysmal exertion-induced dyskinesias (PMID: 11076005, 18451999, 26615598, 27351150). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 16113). 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 with a positive predictive value of 95%. Experimental studies have shown that this missense change affects SLC2A1 function (PMID: 18451999). For these reasons, this variant has been classified as Pathogenic. |
Institute of Human Genetics, |
RCV001253635 | SCV001429464 | pathogenic | Encephalopathy due to GLUT1 deficiency | 2018-06-13 | criteria provided, single submitter | clinical testing | |
Institute of Medical Genetics and Applied Genomics, |
RCV000153967 | SCV001446492 | pathogenic | not provided | 2020-10-23 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000153967 | SCV002496865 | pathogenic | not provided | 2023-05-01 | criteria provided, single submitter | clinical testing | SLC2A1: PM2, PM5, PS2:Moderate, PS4:Moderate, PP2, PS3:Supporting |
MGZ Medical Genetics Center | RCV002288509 | SCV002581027 | pathogenic | Dystonia 9 | 2022-07-19 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001253635 | SCV004172865 | pathogenic | Encephalopathy due to GLUT1 deficiency | 2023-04-11 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000017493 | SCV000037765 | pathogenic | Childhood onset GLUT1 deficiency syndrome 2 | 2008-06-01 | no assertion criteria provided | literature only | |
Genome Diagnostics Laboratory, |
RCV000153967 | SCV001809509 | likely pathogenic | not provided | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV000153967 | SCV001955691 | pathogenic | not provided | no assertion criteria provided | clinical testing |