Submissions for variant NM_006516.4(SLC2A1):c.894C>T (p.Phe298=)

gnomAD frequency: 0.00073  dbSNP: rs140825318

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000128110	SCV000171702	benign	not specified	2013-06-21	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001085167	SCV000557634	likely benign	GLUT1 deficiency syndrome 1, autosomal recessive	2024-01-29	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000726585	SCV000701650	uncertain significance	not provided	2016-10-04	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000726585	SCV001500365	likely benign	not provided	2020-10-01	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002444592	SCV002682076	likely benign	Inborn genetic diseases	2018-05-15	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.