ClinVar Miner

Submissions for variant NM_006516.4(SLC2A1):c.458G>A (p.Arg153His)

dbSNP: rs794727642
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000178275 SCV000230325 uncertain significance not provided 2014-06-03 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000178275 SCV001247442 pathogenic not provided 2024-01-01 criteria provided, single submitter clinical testing SLC2A1: PM1, PM2, PM5, PS4:Moderate, PP3, PS2:Supporting
Labcorp Genetics (formerly Invitae), Labcorp RCV001852209 SCV002246425 pathogenic GLUT1 deficiency syndrome 1, autosomal recessive 2023-06-10 criteria provided, single submitter clinical testing 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).
Solve-RD Consortium RCV004767121 SCV005091344 likely pathogenic Encephalopathy due to GLUT1 deficiency 2022-06-01 no assertion criteria provided provider interpretation Variant confirmed as disease-causing by referring clinical team

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