Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Centro Hospitalar S Joao, |
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). |