Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000429855 | SCV000515966 | pathogenic | not provided | 2022-10-24 | criteria provided, single submitter | clinical testing | Published functional studies demonstrate a damaging effect, as V165I impairs glucose transport activity compared to wildtype (Mueckler et al., 1994); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 9374494, 24847886, 25022942, 25564316, 25099510, 28717674, 8027028, 21530357, 20621801, 28459125) |
Labcorp Genetics |
RCV001865327 | SCV002247281 | pathogenic | GLUT1 deficiency syndrome 1, autosomal recessive | 2023-07-10 | criteria provided, single submitter | clinical testing | This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 165 of the SLC2A1 protein (p.Val165Ile). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with SLC2A1-related conditions (PMID: 20621801, 21530357, 25564316). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 379258). 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. For these reasons, this variant has been classified as Pathogenic. |
Institute of Human Genetics Munich, |
RCV002468576 | SCV002764889 | pathogenic | Childhood onset GLUT1 deficiency syndrome 2 | 2022-07-14 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003445980 | SCV004173446 | pathogenic | Encephalopathy due to GLUT1 deficiency | 2023-04-11 | criteria provided, single submitter | clinical testing |