ClinVar Miner

Submissions for variant NM_006516.4(SLC2A1):c.739G>T (p.Glu247Ter)

dbSNP: rs2124449015
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV001822118 SCV002064385 pathogenic not provided 2020-09-02 criteria provided, single submitter clinical testing DNA sequence analysis of the SLC2A1 gene demonstrated a sequence change in exon 6, c.739G>T. This sequence change results in the creation of a premature stop codon at amino acid position 247, p.Glu247*. This sequence change is predicted to result in an abnormal transcript, which may be degraded, or may lead to the production of a truncated SLC2A1 (GLUT1) protein with potentially abnormal function. This sequence change is absent in the gnomAD population database. Other truncating variants in this region and downstream of this variant have been reported in glucose transporter type 1 deficiency syndrome (PMIDs: 20129935, 25487684, 10980529). Collectively these evidences indicate that, the p.Glu247* sequence change is pathogenic.
Mendelics RCV002246534 SCV002519762 pathogenic Dystonia 9 2022-05-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003446921 SCV004172966 pathogenic Encephalopathy due to GLUT1 deficiency 2023-04-11 criteria provided, single submitter clinical testing

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