ClinVar Miner

Submissions for variant NM_004247.4(EFTUD2):c.2126G>A (p.Trp709Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology RCV003985985 SCV004801805 likely pathogenic Mandibulofacial dysostosis-microcephaly syndrome criteria provided, single submitter clinical testing A previously undescribed nucleotide variant creates a premature translation stop signal p.Trp709Ter in the EFTUD2 gene. The variant was observed in heterozygous state in an individual affected with esophageal atresia, micrognathia, first finger agenesia, and syndactyly. Loss-of-function variants are reported in patients with Mandibulofacial dysostosis, Guion-Almeida type, 610536. The variant is not present in population database (gnomAD no frequency). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as likely pathogenic.

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