ClinVar Miner

Submissions for variant NM_000117.3(EMD):c.102C>G (p.Tyr34Ter)

dbSNP: rs2148128122
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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 RCV001388436 SCV001589433 pathogenic X-linked Emery-Dreifuss muscular dystrophy 2020-09-13 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in EMD are known to be pathogenic (PMID: 24365856). This nonsense change has been observed in individuals with Emery-Dreifuss muscular dystrophy (PMID: 10382909) and clinical features of neuromuscular disease (PMID: 31475473). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Tyr34*) in the EMD gene. It is expected to result in an absent or disrupted protein product.

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