Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000820027 | SCV000960719 | pathogenic | Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant | 2018-12-15 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in SYNE1 are known to be pathogenic (PMID: 27086870). This variant has not been reported in the literature in individuals with SYNE1-related conditions. This variant is present in population databases (rs757744079, ExAC 0.001%). This sequence change creates a premature translational stop signal (p.Glu1512*) in the SYNE1 gene. It is expected to result in an absent or disrupted protein product. |