ClinVar Miner

Submissions for variant NM_002397.5(MEF2C):c.1211C>A (p.Thr404Asn)

dbSNP: rs1756812909
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV001823677 SCV002073287 uncertain significance Intellectual disability, autosomal dominant 20 criteria provided, single submitter clinical testing The missense variant p.T404N in MEF2C (NM_002397.5) has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.T404N variant is novel (not in any individuals) in gnomAD Exomes and is novel (not in any individuals) in 1000 Genomes. The p.T404N missense variant is predicted to be damaging by both SIFT and PolyPhen2. The threonine residue at codon 404 of MEF2C is conserved in all mammalian species. The nucleotide c.1211 in MEF2C is predicted conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Uncertain Significance.

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