ClinVar Miner

Submissions for variant NM_000117.3(EMD):c.217_218dup (p.Met73fs)

dbSNP: rs1557182364
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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 RCV000638215 SCV000759701 pathogenic X-linked Emery-Dreifuss muscular dystrophy 2022-03-18 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with EMD-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Met73Ilefs*50) 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).

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