Submissions for variant NM_006516.4(SLC2A1):c.498C>T (p.Val166=)

gnomAD frequency: 0.00036  dbSNP: rs150971143

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000724628	SCV000230331	uncertain significance	not provided	2017-04-12	criteria provided, single submitter	clinical testing
GeneDx	RCV000178279	SCV000514678	benign	not specified	2015-03-31	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.
Ambry Genetics	RCV002314641	SCV000848838	likely benign	Inborn genetic diseases	2017-01-17	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	RCV001084789	SCV001008518	benign	GLUT1 deficiency syndrome 1, autosomal recessive	2024-01-16	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000724628	SCV002562919	likely benign	not provided	2022-07-01	criteria provided, single submitter	clinical testing	SLC2A1: BP4, BP7