Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Mendelics | RCV002249102 | SCV002517320 | likely pathogenic | Intellectual disability, autosomal dominant 20 | 2022-05-04 | criteria provided, single submitter | clinical testing | |
| Labcorp Genetics |
RCV002249102 | SCV003525802 | pathogenic | Intellectual disability, autosomal dominant 20 | 2022-11-29 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt MEF2C protein function. ClinVar contains an entry for this variant (Variation ID: 1685375). This missense change has been observed in individual(s) with syndromic intellectual disability (PMID: 29159939). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces leucine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 35 of the MEF2C protein (p.Leu35Pro). |