ClinVar Miner

Submissions for variant NM_006516.3(SLC2A1):c.777C>T (p.Ile259=) (rs78388808)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 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 GLUT1 deficiency syndrome 1 2014-07-07 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000147533 SCV000357689 likely benign GLUT1 deficiency syndrome 1 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 Clinical Services Laboratory,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.
Invitae RCV001084489 SCV000557629 benign GLUT1 deficiency syndrome 1, autosomal recessive 2019-12-31 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000723592 SCV000615320 benign not provided 2018-10-09 criteria provided, single submitter clinical testing

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