Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Hudson |
RCV000209864 | SCV000265581 | pathogenic | Intellectual disability, autosomal dominant 20 | 2015-08-07 | criteria provided, single submitter | research | |
Invitae | RCV000209864 | SCV001234047 | likely pathogenic | Intellectual disability, autosomal dominant 20 | 2019-02-04 | criteria provided, single submitter | clinical testing | In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has been observed to be de novo in an individual affected with MEF2C-related disease (PMID: 28554332). ClinVar contains an entry for this variant (Variation ID: 224136). This variant is not present in population databases (ExAC no frequency). This sequence change replaces arginine with lysine at codon 24 of the MEF2C protein (p.Arg24Lys). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and lysine. |