ClinVar Miner

Submissions for variant NM_000117.2(EMD):c.621del (p.Pro208fs) (rs1557182670)

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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 RCV000497431 SCV000590862 pathogenic not provided 2016-07-19 criteria provided, single submitter clinical testing
Invitae RCV000697863 SCV000826496 pathogenic Emery-Dreifuss muscular dystrophy 1, X-linked 2018-04-09 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the EMD gene (p.Pro208Leufs*29). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 47 amino acids of the EMD protein. This variant is not present in population databases (ExAC no frequency). This variant has been reported to segregate with Emery-Dreifuss muscular dystrophy in a large extended family (PMID:8595407, 9195226). This variant is also known as "delG at nucleotide position 1679" in the literature. ClinVar contains an entry for this variant (Variation ID: 433171). 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. For these reasons, this variant has been classified as Pathogenic.

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