Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000521817 | SCV000619412 | likely pathogenic | not provided | 2017-07-27 | criteria provided, single submitter | clinical testing | The c.770_772dupTGC variant in the STXBP1 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The c.770_772dupTGC variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The c.770_772dupTGC variant results in an in-frame duplication and is predicted to cause an insertion of a Leucine residue at codon 257, denoted p.Leu257dup. This substitution occurs at a position that is conserved across species. We interpret c.770_772dupTGC as a likely pathogenic variant, |