Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002795981 | SCV003200767 | pathogenic | Intellectual disability, autosomal dominant 20 | 2022-05-09 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Asn214Thrfs*19) 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). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with MEF2C-related conditions. For these reasons, this variant has been classified as Pathogenic. |