ClinVar Miner

Submissions for variant NM_004247.4(EFTUD2):c.1705C>T (p.Arg569Ter)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002280459 SCV002568585 pathogenic not provided 2022-05-09 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); Nonsense variant predicted to result in protein truncation or nonsense-mediated decay in a gene for which loss-of-function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 26507355, 33247512, 32410215, 23188108)
Labcorp Genetics (formerly Invitae), Labcorp RCV002280459 SCV003442392 pathogenic not provided 2022-10-10 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1703337). This premature translational stop signal has been observed in individual(s) with EFTUD2-related conditions (PMID: 23188108, 32410215). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg569*) in the EFTUD2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in EFTUD2 are known to be pathogenic (PMID: 24999515, 26507355).
Duke University Health System Sequencing Clinic, Duke University Health System RCV003223434 SCV003918985 pathogenic Mandibulofacial dysostosis-microcephaly syndrome 2023-04-20 criteria provided, single submitter research

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