ClinVar Miner

Submissions for variant NM_000117.3(EMD):c.441C>A (p.Cys147Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV003389291 SCV004101302 likely pathogenic Emery-Dreifuss muscular dystrophy 1, X-linked 2023-08-15 criteria provided, single submitter clinical testing The EMD c.441C>A p.(Cys147Ter) nonsense variant results in the loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. This variant is not observed in version 2.1.1 or version 3.1.2 of the Genome Aggregation Database. Based on the available evidence, the c.441C>A p.(Cys147Ter) variant is classified as likely pathogenic for Emery-Dreifuss muscular dystrophy.

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