ClinVar Miner

Submissions for variant NM_000117.2(EMD):c.430G>T (p.Glu144Ter) (rs1557182560)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000557820 SCV000636283 pathogenic Emery-Dreifuss muscular dystrophy 1, X-linked 2018-02-27 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the EMD gene (p.Glu144*). While this is not anticipated to result in nonsense mediated decay, it is expected to delete the last 111 amino acids (~44%) of the EMD protein. This variant is not present in population databases (ExAC no frequency). This variant has been reported in an individual affected with Emery-Dreifuss muscular dystrophy in the Leiden Open-source Variation Database (PMID: 21520333). A different truncation downstream of this variant (p.Trp226*) has been determined to be pathogenic (PMID: 15967842, 8589715). This suggests that deletion of this region of the EMD protein is causative of disease. For these reasons, this variant has been classified as Pathogenic.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000723516 SCV000700529 pathogenic not provided 2017-03-03 criteria provided, single submitter clinical testing

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