ClinVar Miner

Submissions for variant NM_004247.4(EFTUD2):c.702G>T (p.Gly234=)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CNRS UMR1283,Université de Lille 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.

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