ClinVar Miner

Submissions for variant NM_006516.3(SLC2A1):c.1395C>T (p.Ser465=) (rs75852730)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory,University of Chicago RCV000193808 SCV000248912 uncertain significance not specified 2015-02-12 criteria provided, single submitter clinical testing
GeneDx RCV000193808 SCV000514687 likely benign not specified 2017-09-20 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.
Invitae RCV000648092 SCV000769902 likely benign GLUT1 deficiency syndrome 1, autosomal recessive 2019-12-31 criteria provided, single submitter clinical testing
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV000768318 SCV000898978 uncertain significance Stomatin-deficient cryohydrocytosis with neurologic defects; Dystonia 9; GLUT1 deficiency syndrome 1; GLUT1 deficiency syndrome 2; Epilepsy, idiopathic generalized, susceptibility to, 12 2017-12-05 criteria provided, single submitter clinical testing SLC2A1 NM_006516.2 exon 10 p.Ser465= (c.1395C>T): This variant has not been reported in the literature but is present in 4/34420 Latino alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/rs75852730). This variant is present in ClinVar (Variation ID:212203). Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. Of note, this variant is a silent variant and does not change the amino acid, reducing the probability that this variant is disease causing. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.

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