Submissions for variant NM_006516.4(SLC2A1):c.507C>T (p.Leu169=)

gnomAD frequency: 0.00102  dbSNP: rs115541691

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000178278	SCV000171696	benign	not specified	2013-03-08	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Eurofins Ntd Llc (ga)	RCV000178278	SCV000230330	likely benign	not specified	2015-05-04	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000456223	SCV000557627	benign	GLUT1 deficiency syndrome 1, autosomal recessive	2025-01-27	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002312939	SCV000848751	likely benign	Inborn genetic diseases	2017-01-16	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.
Genome-Nilou Lab	RCV003445528	SCV004173435	likely benign	Epilepsy, idiopathic generalized, susceptibility to, 12	2023-04-11	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003445527	SCV004173436	likely benign	Dystonia 9	2023-04-11	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003445525	SCV004173437	likely benign	Encephalopathy due to GLUT1 deficiency	2023-04-11	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003445526	SCV004173438	likely benign	Childhood onset GLUT1 deficiency syndrome 2	2023-04-11	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003445529	SCV004173439	likely benign	Hereditary cryohydrocytosis with reduced stomatin	2023-04-11	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001725996	SCV004185014	likely benign	not provided	2023-11-01	criteria provided, single submitter	clinical testing	SLC2A1: BP4, BP7
Athena Diagnostics	RCV000178278	SCV005620844	benign	not specified	2023-11-08	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000178278	SCV001929892	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001725996	SCV001966072	likely benign	not provided		no assertion criteria provided	clinical testing