ClinVar Miner

Submissions for variant NM_002397.5(MEF2C):c.658C>T (p.Arg220Ter)

dbSNP: rs1761818173
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001253303 SCV001428953 uncertain significance Intellectual disability, autosomal dominant 20 2017-01-01 criteria provided, single submitter clinical testing
Mendelics RCV001253303 SCV002517606 pathogenic Intellectual disability, autosomal dominant 20 2022-05-04 criteria provided, single submitter clinical testing
GeneDx RCV003153962 SCV003842730 pathogenic not provided 2022-09-15 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; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 33831796)

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