ClinVar Miner

Submissions for variant NM_002397.5(MEF2C):c.9A>T (p.Arg3Ser)

dbSNP: rs876661308
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centro Hospitalar S Joao, Faculty of Medicine of Porto RCV000223956 SCV000257360 pathogenic Intellectual disability, autosomal dominant 20 2013-12-20 no assertion criteria provided clinical testing This variant in the MEF2C gene, not described in the literature before, was identified in a 10 year-old boy with severe psychomotor delay, epilepsy, generalized hypotonia, poor eye contact, hand-mouth stereotypies, strabismus and minor facial dimorphism. This variant is predicted to be pathogenic (according to Mutation taster (MT), PolyPhen-2 (PP-2) and Sorts Intolerant From Tolerant (SIFT).

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