Submissions for variant NM_006516.4(SLC2A1):c.736_739del (p.Glu246fs)

dbSNP: rs1570592604

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001049017	SCV001213050	pathogenic	GLUT1 deficiency syndrome 1, autosomal recessive	2024-04-12	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.Glu246Argfs*5) in the SLC2A1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SLC2A1 are known to be pathogenic (PMID: 21832227, 26193382). This variant is not present in population databases (gnomAD no frequency). 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: 812757). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. For these reasons, this variant has been classified as Pathogenic.
Genomics England Pilot Project, Genomics England	RCV001542521	SCV001760032	pathogenic	Childhood onset GLUT1 deficiency syndrome 2		criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003446586	SCV004172967	pathogenic	Encephalopathy due to GLUT1 deficiency	2023-04-11	criteria provided, single submitter	clinical testing
NIHR Bioresource Rare Diseases, University of Cambridge	RCV001003570	SCV001161931	pathogenic	Global developmental delay; Seizure; Strabismus		no assertion criteria provided	research