ClinVar Miner

Submissions for variant NM_006516.4(SLC2A1):c.275+1del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Sezerman Lab, Dept of Biostatistics and Bioinformatics, Acibadem Mehmet Ali Aydinlar University RCV001353343 SCV001548248 pathogenic GLUT1 deficiency syndrome 1 no assertion criteria provided clinical testing The missense splicing variant c.275+1G>A, which is in the same position as our patient, was reported before by Ismayilova et al. Hereby, we report a 5-year 8-month girl with global developmental delay, spasticity, intellectual disability, dysarthric speech, abnormal eye movements, and hemangioma. The electroencephalography (EEG) result revealed that she had epilepsy. Magnetic resonance imaging (MRI) showed that non-specific white matter abnormalities. Whole Exome Sequencing (WES) data analysis revealed a heterozygous splicing variant in the SLC2A1 gene. Segregation analysis with parental DNA samples indicated that the variant occurred de novo. Lumbar puncture (LP) confirmed the diagnosis. Ismayilova N, Hacohen Y, MacKinnon AD, Elmslie F, Clarke A. GLUT-1 deficiency presenting with seizures and reversible leukoencephalopathy on MRI imaging. European Journal of Paediatric Neurology. 2018;22:1161–4.

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