Submissions for variant NM_006516.4(SLC2A1):c.777C>T (p.Ile259=)

gnomAD frequency: 0.00068  dbSNP: rs78388808

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000723592	SCV000113370	uncertain significance	not provided	2017-08-08	criteria provided, single submitter	clinical testing
GeneDx	RCV000186663	SCV000171701	benign	not specified	2013-10-31	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.
Genetic Services Laboratory, University of Chicago	RCV000147533	SCV000194978	uncertain significance	Encephalopathy due to GLUT1 deficiency	2014-07-07	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000147533	SCV000357689	likely benign	Encephalopathy due to GLUT1 deficiency	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services, Illumina	RCV000310167	SCV000357690	likely benign	Dystonia 9	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001084489	SCV000557629	benign	GLUT1 deficiency syndrome 1, autosomal recessive	2025-01-22	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000723592	SCV000615320	benign	not provided	2018-10-09	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000723592	SCV001961103	likely benign	not provided	2024-07-01	criteria provided, single submitter	clinical testing	SLC2A1: BP4, BP7
Ambry Genetics	RCV002408608	SCV002674696	likely benign	Inborn genetic diseases	2017-09-18	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.
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000723592	SCV001932209	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000723592	SCV001965249	likely benign	not provided		no assertion criteria provided	clinical testing