ClinVar Miner

Submissions for variant NM_002397.5(MEF2C):c.45dup (p.Asn16Ter)

dbSNP: rs1554150552
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000627395 SCV000748389 pathogenic not provided 2018-03-15 criteria provided, single submitter clinical testing The c.45dupT variant in the MEF2C gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.45dupT variant causes a frameshift starting with codon Asparagine 16 and changes this amino acid to a premature Stop codon, denoted p.Asn16Ter. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.45dupT variant is not observed in large population cohorts (Lek et al., 2016).
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes RCV001374908 SCV001572195 pathogenic Neurodevelopmental disorder 2020-08-03 criteria provided, single submitter clinical testing
Invitae RCV003619715 SCV004374577 pathogenic Intellectual disability, autosomal dominant 20 2023-12-12 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asn16*) in the MEF2C gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MEF2C are known to be pathogenic (PMID: 20513142). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with clinical features of MEF2C-related conditions (PMID: 33831796). ClinVar contains an entry for this variant (Variation ID: 523919). For these reasons, this variant has been classified as Pathogenic.

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