ClinVar Miner

Submissions for variant NM_000117.3(EMD):c.643del (p.Ala215fs)

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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 RCV003640346 SCV004459357 pathogenic X-linked Emery-Dreifuss muscular dystrophy 2023-04-24 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the EMD protein in which other variant(s) (p.Trp226*) have been determined to be pathogenic (PMID: 8589715, 15967842). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. This variant has not been reported in the literature in individuals affected with EMD-related conditions. This sequence change creates a premature translational stop signal (p.Ala215Leufs*22) in the EMD gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 40 amino acid(s) of the EMD protein.

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