ClinVar

Description

For these reasons, this variant has been classified as Pathogenic. This variant disrupts the p.Arg153 amino acid residue in SLC2A1. Other variant(s) that disrupt this residue have been observed in individuals with SLC2A1-related conditions (PMID: 12325075, 17718830), which suggests that this may be a clinically significant amino acid residue. 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: 197281). This missense change has been observed in individual(s) with autosomal dominant glucose transporter type 1 deficiency syndrome (PMID: 20129935, 26193382, 26267703). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 153 of the SLC2A1 protein (p.Arg153His).