ClinVar Miner

Submissions for variant NM_006516.3(SLC2A1):c.1016T>C (p.Ile339Thr) (rs141619735)

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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 RCV000724044 SCV000232709 uncertain significance not provided 2014-07-08 criteria provided, single submitter clinical testing
GeneDx RCV000189370 SCV000243008 likely benign not specified 2018-02-07 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 RCV000189370 SCV000248909 uncertain significance not specified 2014-12-12 criteria provided, single submitter clinical testing
Invitae RCV001079673 SCV000557624 likely benign GLUT1 deficiency syndrome 1, autosomal recessive 2019-12-31 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000515255 SCV000611522 uncertain significance Stomatin-deficient cryohydrocytosis with neurologic defects 2017-05-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV000720190 SCV000851067 uncertain significance History of neurodevelopmental disorder 2016-07-07 criteria provided, single submitter clinical testing Insufficient evidence
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV000768319 SCV000898979 uncertain significance Stomatin-deficient cryohydrocytosis with neurologic defects; Dystonia 9; GLUT1 deficiency syndrome 1; GLUT1 deficiency syndrome 2; Epilepsy, idiopathic generalized, susceptibility to, 12 2018-04-09 criteria provided, single submitter clinical testing SLC2A1 NM_006516.2 exon 8 p.Ile339Thr (c.1016T>C): This variant has been reported in the literature in 1 individual with meningomyocele (Cormier 2011 PMID:21135204). However, this variant is present in 0.3% (127/34406) of Latino alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/rs141619735). This variant is present in ClinVar (Variation ID:198843). Evolutionary conservation and computational predictive tools for this variant are unclear. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.

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