ClinVar Miner

Submissions for variant NM_000117.2(EMD):c.640_644dup (p.Gln219fs) (rs1557182676)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Diagnostics Lab,Nemours Alfred I. duPont Hospital for Children RCV000497728 SCV000590865 likely pathogenic not provided 2016-07-25 criteria provided, single submitter clinical testing
Invitae RCV001388629 SCV001589700 pathogenic Emery-Dreifuss muscular dystrophy 1, X-linked 2020-02-26 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the EMD gene (p.Gln219Trpfs*20). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 36 amino acids of the EMD protein. This variant is not present in population databases (ExAC no frequency). This frameshift change has been observed in individual(s) with Emery-Dreifuss muscular dystrophy (PMID: 8595406). ClinVar contains an entry for this variant (Variation ID: 433173). This variant disrupts the C-terminus of the EMD protein. Other variant(s) that disrupt this region (p.Trp226*) have been determined to be pathogenic (PMID: 8589715, 15967842). This suggests that variants that disrupt this region of the protein are likely to be causative of disease. For these reasons, this variant has been classified as Pathogenic.

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