ClinVar Miner

Submissions for variant NM_006516.4(SLC2A1):c.1395C>T (p.Ser465=)

gnomAD frequency: 0.00008  dbSNP: rs75852730
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Total submissions: 5
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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 RCV001721262 SCV000514687 likely benign not provided 2021-04-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000648092 SCV000769902 likely benign GLUT1 deficiency syndrome 1, autosomal recessive 2024-01-27 criteria provided, single submitter clinical testing
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV000768318 SCV000898978 uncertain significance Hereditary cryohydrocytosis with reduced stomatin; Dystonia 9; Encephalopathy due to GLUT1 deficiency; Childhood onset GLUT1 deficiency syndrome 2; Epilepsy, idiopathic generalized, susceptibility to, 12 2021-03-30 criteria provided, single submitter clinical testing SLC2A1 NM_006516 exon 10 p.Ser465Ser (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.
Ambry Genetics RCV002390507 SCV002701679 likely benign Inborn genetic diseases 2017-11-14 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.

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