ClinVar Miner

Submissions for variant NM_004247.4(EFTUD2):c.1732C>T (p.Arg578Ter) (rs1057520673)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000431548 SCV000516848 pathogenic not provided 2018-05-12 criteria provided, single submitter clinical testing The R578X variant in the EFTUD2 gene has been reported previously in multiple individuals withmandibulofacial dysplasia, including an affected mother-son pair (Sarkar et al., 2015; Huang et al.,2016). This variant is predicted to cause loss of normal protein function either through proteintruncation or nonsense-mediated mRNA decay. The R578X variant is not observed in large populationcohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). Weinterpret R578X as a pathogenic variant.
Baylor Genetics RCV000679887 SCV000807286 pathogenic Mandibulofacial dysostosis-microcephaly syndrome 2017-09-01 criteria provided, single submitter clinical testing This nonsense mutation is categorized as deleterious according to ACMG guidelines (PMID:18414213). It was found once in our laboratory de novo in a 2-year-old male with microcephaly, ear malformations, hearin loss, PFO, cryptorchidism

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