ClinVar Miner

Submissions for variant NM_152743.4(BRAT1):c.1499-1G>T

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Dr Sami Ulus Medical Genetics Department,Dr Sami Ulus Training and Research Hospital for Maternity and Children's Health and Diseases RCV001260917 SCV001237446 pathogenic Rigidity and multifocal seizure syndrome, lethal neonatal 2020-04-14 no assertion criteria provided clinical testing This mutation was not found in publicly available databases, including gnomAD database or among our in-house control clinical exomes. In silico predictions indicating that the variant is probably pathogenic by affecting pre-mRNA splicing were verified by genetic analysis based on reverse transcription of the patient's RNA followed by PCR amplifications and Sanger sequencing performed on cDNA. Sanger sequencing of cDNA revealed that the c.1499-1G>T variant disrupts the original acceptor splice site and activates a cryptic splice site only two nucleotides downstream of the pathogenic variant site. This change causes the deletion of the first two nucleotides of exon 12, leading to a frameshift (Glu500Alafs*36) in the mRNA of the BRAT1.

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