ClinVar Miner

Submissions for variant NM_002397.5(MEF2C):c.48C>G (p.Asn16Lys)

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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 RCV005179221 SCV005812886 pathogenic Intellectual disability, autosomal dominant 20 2024-08-18 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with lysine, which is basic and polar, at codon 16 of the MEF2C protein (p.Asn16Lys). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with MEF2C-related conditions (PMID: 30376817). In at least one individual the variant was observed to be de novo. Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is expected to disrupt MEF2C protein function with a positive predictive value of 95%. For these reasons, this variant has been classified as Pathogenic.

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