ClinVar Miner

Submissions for variant NM_002397.5(MEF2C):c.43C>T (p.Arg15Cys)

dbSNP: rs796052728
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000188145 SCV000241752 pathogenic not provided 2022-05-16 criteria provided, single submitter clinical testing Not observed in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 26633542, 29468350, 29655203, 30504930, 33994118)
Labcorp Genetics (formerly Invitae), Labcorp RCV002514022 SCV003525881 likely pathogenic Intellectual disability, autosomal dominant 20 2022-11-29 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.Arg15 amino acid residue in MEF2C. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 34055696). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. 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: 206129). This missense change has been observed in individual(s) with clinical features of MEF2C-related conditions (PMID: 26633542, 29468350, 30504930, 33994118). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 15 of the MEF2C protein (p.Arg15Cys).
University of Washington Center for Mendelian Genomics, University of Washington RCV001291376 SCV001479850 likely pathogenic Autism spectrum disorder no assertion criteria provided research

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