Submissions for variant NM_006516.4(SLC2A1):c.606C>T (p.Ile202=)

gnomAD frequency: 0.00004  dbSNP: rs779779804

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV002316131	SCV000847718	likely benign	Inborn genetic diseases	2016-08-29	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001506187	SCV001711105	likely benign	GLUT1 deficiency syndrome 1, autosomal recessive	2024-01-25	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003446389	SCV004173380	likely benign	Epilepsy, idiopathic generalized, susceptibility to, 12	2023-04-11	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003446388	SCV004173381	likely benign	Dystonia 9	2023-04-11	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003446386	SCV004173382	likely benign	Encephalopathy due to GLUT1 deficiency	2023-04-11	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003446387	SCV004173383	likely benign	Childhood onset GLUT1 deficiency syndrome 2	2023-04-11	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003446390	SCV004173384	likely benign	Hereditary cryohydrocytosis with reduced stomatin	2023-04-11	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV003884715	SCV004701059	likely benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	SLC2A1: BP4, BP7