Submissions for variant NM_006516.4(SLC2A1):c.843_854del (p.Gln282_Ser285del)

dbSNP: rs2124448824

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Mayo Clinic Laboratories, Mayo Clinic	RCV002284173	SCV002573719	likely pathogenic	not provided	2021-09-13	criteria provided, single submitter	clinical testing	PP1, PM2, PS3
Labcorp Genetics (formerly Invitae), Labcorp	RCV002513077	SCV003523192	pathogenic	GLUT1 deficiency syndrome 1, autosomal recessive	2023-08-04	criteria provided, single submitter	clinical testing	For these reasons, this variant has been classified as Pathogenic. Experimental studies have shown that this variant affects SLC2A1 function (PMID: 18451999). Algorithms developed to predict the effect of variants on protein structure and function are not available or were not evaluated for this variant. ClinVar contains an entry for this variant (Variation ID: 16112). This variant has been observed in individual(s) with SLC2A1-related conditions (PMID: 18451999, 25022942). In at least one individual the variant was observed to be de novo. It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (gnomAD no frequency). This variant, c.843_854del, results in the deletion of 4 amino acid(s) of the SLC2A1 protein (p.Gln282_Ser285del), but otherwise preserves the integrity of the reading frame.
Genome-Nilou Lab	RCV003445076	SCV004172897	likely pathogenic	Encephalopathy due to GLUT1 deficiency	2023-04-11	criteria provided, single submitter	clinical testing
OMIM	RCV000017492	SCV000037764	pathogenic	Childhood onset GLUT1 deficiency syndrome 2	2008-06-01	no assertion criteria provided	literature only