ClinVar Miner

Submissions for variant NM_002397.5(MEF2C):c.566_567dup (p.Pro190fs)

dbSNP: rs1554112069
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000481751 SCV000573826 pathogenic not provided 2017-02-24 criteria provided, single submitter clinical testing The c.566_567dupGA variant in the MEF2C gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.566_567dupGA variant causes a frameshift starting with codon Proline 190, changes this amino acid to an Aspartic Acid residue, and creates a premature Stop codon at position 11 of the new reading frame, denoted p.Pro190AspfsX11. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.566_567dupGA variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). We interpret c.566_567dupGA as a pathogenic variant.

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