ClinVar Miner

Submissions for variant NM_004247.4(EFTUD2):c.1421del (p.Leu474fs)

dbSNP: rs2508762950
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV003486006 SCV004232728 pathogenic Mandibulofacial dysostosis-microcephaly syndrome 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV004723336 SCV005331599 pathogenic not provided 2024-01-16 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); Frameshift 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: 35395430)
Clinical Genetics Laboratory, Skane University Hospital Lund RCV005242402 SCV005889716 pathogenic Mandibulofacial dysostosis 2024-12-27 criteria provided, single submitter clinical testing Observed in a heterozygous state (de novo) at our lab in a patient with matching phenotype. ACMG criteria used: PVS1, PS2, PS4, PM2

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