Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000534765 | SCV000645650 | pathogenic | Severe neonatal-onset encephalopathy with microcephaly | 2018-10-25 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Several C-terminal truncations of the MECP2 protein that lie downstream of this variant have been determined to be pathogenic (PMID: 19914908). This suggests that deletion of this region of the MECP2 protein is causative of disease. This variant has not been reported in the literature in individuals with MECP2-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change results in a premature translational stop signal in the MECP2 gene (p.Ser341Glufs*52). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 146 amino acids of the MECP2 protein. |