ClinVar Miner

Submissions for variant NM_000117.3(EMD):c.581_582del (p.Ser194fs)

dbSNP: rs1557182654
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000638224 SCV000759710 pathogenic X-linked Emery-Dreifuss muscular dystrophy 2017-12-29 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the EMD gene (p.Ser194Phefs*15). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 61 amino acids of the EMD protein. This variant is not present in population databases (ExAC no frequency). For these reasons, this variant has been classified as Pathogenic. A different truncation (p.Trp226*) that lies downstream of this variant has been determined to be pathogenic (PMID: 8589715, 15967842). This suggests that deletion of this region of the EMD protein is causative of disease. This variant has not been reported in the literature in individuals with EMD-related disease.

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