ClinVar Miner

Submissions for variant NM_006516.4(SLC2A1):c.1059C>T (p.Ile353=)

gnomAD frequency: 0.00001  dbSNP: rs372092107
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000434672 SCV000516682 benign not specified 2015-09-17 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 RCV000648099 SCV000769909 benign GLUT1 deficiency syndrome 1, autosomal recessive 2024-10-24 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003409590 SCV004127893 likely benign not provided 2023-10-01 criteria provided, single submitter clinical testing SLC2A1: BP4, BP7
Genome-Nilou Lab RCV003445984 SCV004172753 likely benign Epilepsy, idiopathic generalized, susceptibility to, 12 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003445983 SCV004172754 likely benign Dystonia 9 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003445981 SCV004172755 likely benign Encephalopathy due to GLUT1 deficiency 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003445982 SCV004172756 likely benign Childhood onset GLUT1 deficiency syndrome 2 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003445985 SCV004172757 likely benign Hereditary cryohydrocytosis with reduced stomatin 2023-04-11 criteria provided, single submitter clinical testing

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