Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
CNRS UMR1283, |
RCV001194619 | SCV001251173 | pathogenic | Mandibulofacial dysostosis-microcephaly syndrome | 2020-05-18 | no assertion criteria provided | clinical testing | The de novo synonymous variant c.702G>T ; p.G234G has been reported in a young female with symptoms of Mandibulo-Facial-Dysostosis with Microcephaly (MFDM) such as postnatal microcephaly to -3SD, sensorineural hearing loss, and global intellectual delay with difficulties of comprehension, epileptic seizures, livedo and facial dysmorphisms. This variant in the EFTUD2 gene was absent from large population studies. We demonstrated that this synonymous variant disrupts the donor splice-site in intron 9 resulting in the skipping of exon 9 and a frameshift that leads to a premature stop codon. |