ClinVar

Description

The confirmed de novo c.1095_1096delCT pathogenic variant in the STXBP1 gene was previously reported as an assumed de novo variant in a patient with neonatal-onset refractory seizures and clinical diagnoses of Ohtahara syndrome and West syndrome (Di Meglio et al., 2015). The c.1095_1096delCT variant causes a frameshift starting with codon Cysteine 366, changes this amino acid to a Proline residue, and creates a premature Stop codon at position 13 of the new reading frame, denoted p.Cys366ProfsX13. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.1095_1096delCT variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret c.1095_1096delCT as a pathogenic variant.