ClinVar Miner

Submissions for variant NM_000117.3(EMD):c.60del (p.Asn20fs)

dbSNP: rs886041854
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Total submissions: 4
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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 Children's Health, Delaware RCV000283932 SCV000590866 likely pathogenic not provided 2016-07-25 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000526347 SCV000636286 pathogenic X-linked Emery-Dreifuss muscular dystrophy 2017-07-07 criteria provided, single submitter clinical testing 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). This variant is not present in population databases (ExAC no frequency). 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. Loss-of-function variants in EMD are known to be pathogenic (PMID: 24365856). For these reasons, this variant has been classified as Pathogenic.
Revvity Omics, Revvity RCV003492025 SCV002022181 pathogenic Emery-Dreifuss muscular dystrophy 1, X-linked 2019-07-08 criteria provided, single submitter clinical testing

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