ClinVar Miner

Submissions for variant NM_006516.4(SLC2A1):c.192C>G (p.Leu64=)

gnomAD frequency: 0.00001  dbSNP: rs762583668
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV000768089 SCV000898980 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 3 p.Leu64= (c.192C>G): This variant has not been reported in the literature but is present in 7/18870 East Asian alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/rs762583668). 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001392600 SCV001594245 likely benign GLUT1 deficiency syndrome 1, autosomal recessive 2019-09-10 criteria provided, single submitter clinical testing

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