ClinVar Miner

Submissions for variant NM_000117.2(EMD):c.60del (p.Asn20fs) (rs886041854)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000283932 SCV000330634 pathogenic not provided 2016-06-30 criteria provided, single submitter clinical testing The c.60delC pathogenic variant in the EMD gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.60delC variant causes a frameshift starting with codon Asparagine 20, changes this amino acid to a Lysince residue, and creates a premature Stop codon at position 7 of the new reading frame, denoted p.Asn20LysfsX7. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.60delC variant was not observed in approximately 6100 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret c.60delC as a pathogenic variant.
Molecular Diagnostics Lab,Nemours Alfred I. duPont Hospital for Children RCV000283932 SCV000590866 likely pathogenic not provided 2016-07-25 criteria provided, single submitter clinical testing
Invitae RCV000526347 SCV000636286 pathogenic Emery-Dreifuss muscular dystrophy 1, X-linked 2017-07-17 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asn20Lysfs*7) in the EMD gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with EMD-related disease. ClinVar contains an entry for this variant (Variation ID: 280697). Loss-of-function variants in EMD are known to be pathogenic (PMID: 24365856). For these reasons, this variant has been classified as Pathogenic.

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