ClinVar Miner

Submissions for variant NM_004247.4(EFTUD2):c.446T>A (p.Leu149Ter)

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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 and NGS Laboratory, Hospital Fundacion Valle Del Lili RCV004698762 SCV005200476 likely pathogenic Mandibulofacial dysostosis-microcephaly syndrome 2024-08-14 criteria provided, single submitter clinical testing Null variant (nonsense) in gene EFTUD2, predicted to cause NMD. Loss-of-function is a known mechanism of disease. The exon affects 1 functional domain: UniProt protein U5S1_HUMAN domain 'tr-type G'. The truncated region contains 132 pathogenic variants (PVS1). The variant has not been found in genomAD exomes or in genomAD genomes. We identified this variant in heterozygosity in a 30-year-old man with a phenotype of mandibulofacial dysostosis.

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