ClinVar Miner

Submissions for variant NM_002397.5(MEF2C):c.79G>A (p.Gly27Arg)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003093183 SCV003484018 likely pathogenic Intellectual disability, autosomal dominant 20 2022-03-30 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. This variant disrupts the p.Gly27 amino acid residue in MEF2C. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 20513142). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. 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 is not present in population databases (gnomAD no frequency). This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 27 of the MEF2C protein (p.Gly27Arg). This missense change has been observed in individual(s) with MEF2C-related conditions (PMID: 29863696). In at least one individual the variant was observed to be de novo.

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