Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003015781 | SCV003308232 | pathogenic | Intellectual disability, autosomal dominant 20 | 2022-02-02 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Pro294Glnfs*5) in the MEF2C gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MEF2C are known to be pathogenic (PMID: 20513142). For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with MEF2C-related conditions. This variant is not present in population databases (gnomAD no frequency). |