Submissions for variant NM_006516.4(SLC2A1):c.1408G>C (p.Gly470Arg)

dbSNP: rs572648977

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000766835	SCV000243020	likely benign	not provided	2021-01-07	criteria provided, single submitter	clinical testing	Reported in an individual with epilepsy (Schoeler et al., 2015); This variant is associated with the following publications: (PMID: 25914049, 30009487, 24215330)
Athena Diagnostics	RCV000189382	SCV000615317	likely benign	not specified	2017-03-20	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000692340	SCV000820157	uncertain significance	GLUT1 deficiency syndrome 1, autosomal recessive	2024-01-15	criteria provided, single submitter	clinical testing	This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 470 of the SLC2A1 protein (p.Gly470Arg). This variant is present in population databases (rs572648977, gnomAD 0.03%). This missense change has been observed in individual(s) with epilepsy and a suspected mitochondrial disorder (PMID: 24215330, 25914049). ClinVar contains an entry for this variant (Variation ID: 207216). 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 not expected to disrupt SLC2A1 protein function with a negative predictive value of 95%. 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.
CeGaT Center for Human Genetics Tuebingen	RCV000766835	SCV004701423	uncertain significance	not provided	2024-01-01	criteria provided, single submitter	clinical testing	SLC2A1: PM2