ClinVar Miner

Submissions for variant NM_002397.5(MEF2C):c.51_54del (p.Arg17_Gln18insTer)

dbSNP: rs1554150543
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000498824 SCV000589511 pathogenic not provided 2023-03-31 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Reported as a de novo variant in a patient with a developmental disorder who also harbored a de novo variant in the PCDHGA10 gene (Turner et al., 2019); Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 30440138, 20513142, 31785789)
Labcorp Genetics (formerly Invitae), Labcorp RCV001071342 SCV001236639 pathogenic Intellectual disability, autosomal dominant 20 2019-12-04 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in MEF2C are known to be pathogenic (PMID: 20513142). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. This variant has been observed in individual(s) with clinical features of MEF2C-related conditions (PMID: 30440138). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gln18*) in the MEF2C gene. It is expected to result in an absent or disrupted protein product.
Genetic Services Laboratory, University of Chicago RCV000498824 SCV002069099 pathogenic not provided 2018-02-22 criteria provided, single submitter clinical testing
GenomeConnect, ClinGen RCV000509200 SCV000606922 not provided MEF2C-related disorder no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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