Submissions for variant NM_006516.4(SLC2A1):c.543C>T (p.Gly181=)

gnomAD frequency: 0.00008  dbSNP: rs377674001

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000128106	SCV000171697	benign	not specified	2014-01-16	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	RCV000147526	SCV000194969	uncertain significance	Encephalopathy due to GLUT1 deficiency	2013-02-08	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000648093	SCV000769903	likely benign	GLUT1 deficiency syndrome 1, autosomal recessive	2023-12-28	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002345440	SCV002652253	likely benign	Inborn genetic diseases	2018-02-21	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.