ClinVar Miner

Submissions for variant NM_004247.4(EFTUD2):c.670G>A (p.Gly224Arg)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV003985181 SCV004801498 likely pathogenic Mandibulofacial dysostosis-microcephaly syndrome 2017-06-28 criteria provided, single submitter clinical testing The EFTUD2 c.670G>A p.(Gly224Arg) missense variant has been identified in an individual with a phenotype consistent with mandibulofacial dysostosis-microcephaly syndrome (Gordon et al. 2012). The Gly224 residue is highly conserved across species. This variant is not observed in version 2.1.1 of the Genome Aggregation Database. The variant was identified in a de novo state in the proband. Based on the available evidence, the c.670G>A p.(Gly224Arg) variant is classified as likely pathogenic for mandibulofacial dysostosis-microcephaly syndrome.
Neuberg Centre For Genomic Medicine, NCGM RCV003985181 SCV005374780 uncertain significance Mandibulofacial dysostosis-microcephaly syndrome criteria provided, single submitter clinical testing

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