ClinVar Miner

Submissions for variant NM_002397.5(MEF2C):c.532C>T (p.Gln178Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genomics Program, Stanford Medicine RCV001253802 SCV001427026 likely pathogenic Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations 2019-01-17 no assertion criteria provided clinical testing This variant is a predicted loss of function variant in the MEF2C gene. Loss of function variants in the MEF2C gene are an established cause of disease. This variant has not been previously reported in association with disease. This variant was also absent from large population databases, including the Genome Aggregation Database (http://gnomad.broadinstitute.org/). These data were assessed using the ACMG/AMP variant interpretation guidelines. In summary, we conclude that there is sufficient evidence to classify the this variant as likely pathogenic for disease in an autosomal dominant manner. [ACMG evidence codes used: PVS1, PM2]

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