Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000627395 | SCV000748389 | pathogenic | not provided | 2018-03-15 | criteria provided, single submitter | clinical testing | The c.45dupT variant in the MEF2C gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.45dupT variant causes a frameshift starting with codon Asparagine 16 and changes this amino acid to a premature Stop codon, denoted p.Asn16Ter. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.45dupT variant is not observed in large population cohorts (Lek et al., 2016). |
Laboratory of Molecular Genetics |
RCV001374908 | SCV001572195 | pathogenic | Neurodevelopmental disorder | 2020-08-03 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003619715 | SCV004374577 | pathogenic | Intellectual disability, autosomal dominant 20 | 2023-12-12 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Asn16*) 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 premature translational stop signal has been observed in individual(s) with clinical features of MEF2C-related conditions (PMID: 33831796). ClinVar contains an entry for this variant (Variation ID: 523919). For these reasons, this variant has been classified as Pathogenic. |