Submissions for variant NM_006516.4(SLC2A1):c.188C>T (p.Thr63Met)

gnomAD frequency: 0.00006  dbSNP: rs200828053

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000476696	SCV000545831	likely benign	GLUT1 deficiency syndrome 1, autosomal recessive	2024-01-15	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV000763915	SCV000894859	uncertain significance	Hereditary cryohydrocytosis with reduced stomatin; Dystonia 9; Encephalopathy due to GLUT1 deficiency; Childhood onset GLUT1 deficiency syndrome 2; Epilepsy, idiopathic generalized, susceptibility to, 12	2018-10-31	criteria provided, single submitter	clinical testing
GeneDx	RCV001580496	SCV001817744	likely benign	not provided	2019-11-14	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002523299	SCV003717863	likely benign	Inborn genetic diseases	2021-08-18	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.
Revvity Omics, Revvity	RCV001580496	SCV003825659	uncertain significance	not provided	2023-01-24	criteria provided, single submitter	clinical testing
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	RCV003989532	SCV004807323	uncertain significance	Epilepsy, idiopathic generalized, susceptibility to, 12	2024-03-26	criteria provided, single submitter	clinical testing