ClinVar Miner

Submissions for variant NM_004247.4(EFTUD2):c.2551del (p.Ala851fs) (rs1555564126)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute RCV000578176 SCV000680018 likely pathogenic Mandibulofacial dysostosis-microcephaly syndrome 2017-03-31 criteria provided, single submitter clinical testing A heterozygous deletion variant was identified, NM_004247.3(EFTUD2):c.2551delG in exon 25 of the EFTUD2 gene (chr17:42930673). This deletion is predicted to cause a frameshift from amino acid position 851, introducing a stop codon 7 residues downstream, NP_004238.3(EFTUD2):p.(Ala851ProfsTer7), resulting in loss of normal protein function either through truncation (loss of ~1/10th of the protien) or nonsense-mediated decay. This variant has not been previously observed in our cohort, it is not present in population databases (ExAC/GnomAD) and has not been previously observed in other clinical cases. However, other heterozygous truncating variants downstream of c.2551delG in EFTUD2 gene have been reported as pathogenic in individuals with Mandibulofacial dysostosis (ClinVar). Based on current information, this variant has been classified as LIKELY PATHOGENIC.

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