ClinVar Miner

Submissions for variant NM_001131005.2(MEF2C):c.9A>T (p.Arg3Ser) (rs876661308)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centro Hospitalar S Joao,Faculty of Medicine of Porto RCV000223956 SCV000257360 pathogenic Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations 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).

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.