Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000691890 | SCV000819687 | pathogenic | Intellectual disability, autosomal dominant 20 | 2018-04-27 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Pro261Thrfs*12) in the MEF2C gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with MEF2C-related disease. Loss-of-function variants in MEF2C are known to be pathogenic (PMID: 20513142). For these reasons, this variant has been classified as Pathogenic. |