ClinVar Miner

Submissions for variant NM_004247.4(EFTUD2):c.2770C>T (p.Gln924Ter)

dbSNP: rs387906878
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001582495 SCV001817928 pathogenic not provided 2020-02-03 criteria provided, single submitter clinical testing Nonsense variant in the C-terminus predicted to result in protein truncation, as the last 49 amino acids are lost, and other loss-of-function variants have been reported downstream in the Human Gene Mutation Database (Stenson et al., 2014); Not observed in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 27895973, 25790162, 22305528)
OMIM RCV000023354 SCV000044645 pathogenic Mandibulofacial dysostosis-microcephaly syndrome 2012-02-10 no assertion criteria provided literature only

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