ClinVar Miner

Submissions for variant NM_000117.3(EMD):c.674del (p.Leu225fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002899074 SCV003238596 pathogenic X-linked Emery-Dreifuss muscular dystrophy 2022-09-24 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the EMD protein in which other variant(s) (p.Trp226*) have been determined to be pathogenic (PMID: 8589715, 15967842). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. This premature translational stop signal has been observed in individual(s) with clinical features of Emery-Dreifuss muscular dystrophy (Invitae). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Leu225Profs*12) in the EMD gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 30 amino acid(s) of the EMD protein.
Revvity Omics, Revvity RCV003492783 SCV003832102 likely pathogenic Emery-Dreifuss muscular dystrophy 1, X-linked 2022-11-02 criteria provided, single submitter clinical testing

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