Submissions for variant NM_006516.4(SLC2A1):c.790C>T (p.Arg264Cys)

gnomAD frequency: 0.00002  dbSNP: rs766376173

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000179465	SCV000231718	uncertain significance	not provided	2014-06-09	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000467294	SCV000545833	uncertain significance	GLUT1 deficiency syndrome 1, autosomal recessive	2025-01-29	criteria provided, single submitter	clinical testing	This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 264 of the SLC2A1 protein (p.Arg264Cys). This variant is present in population databases (rs766376173, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with SLC2A1-related conditions. ClinVar contains an entry for this variant (Variation ID: 198195). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is expected to disrupt SLC2A1 protein function with a positive predictive value of 80%. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics	RCV002317055	SCV000851105	uncertain significance	Inborn genetic diseases	2016-07-06	criteria provided, single submitter	clinical testing	The p.R264C variant (also known as c.790C>T), located in coding exon 6 of the SLC2A1 gene, results from a C to T substitution at nucleotide position 790. The arginine at codon 264 is replaced by cysteine, an amino acid with highly dissimilar properties. This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 6503 samples (13006 alleles) with coverage at this position. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
CeGaT Center for Human Genetics Tuebingen	RCV000179465	SCV002585041	uncertain significance	not provided	2022-08-01	criteria provided, single submitter	clinical testing	SLC2A1: PM2:Supporting
Revvity Omics, Revvity	RCV000179465	SCV003825661	uncertain significance	not provided	2021-05-04	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003445611	SCV004172931	uncertain significance	Epilepsy, idiopathic generalized, susceptibility to, 12	2023-04-11	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003445610	SCV004172932	uncertain significance	Dystonia 9	2023-04-11	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003445608	SCV004172933	uncertain significance	Encephalopathy due to GLUT1 deficiency	2023-04-11	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003445609	SCV004172934	uncertain significance	Childhood onset GLUT1 deficiency syndrome 2	2023-04-11	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003445612	SCV004172935	uncertain significance	Hereditary cryohydrocytosis with reduced stomatin	2023-04-11	criteria provided, single submitter	clinical testing