ClinVar Miner

Submissions for variant NM_000117.3(EMD):c.512C>G (p.Ser171Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV004547315 SCV005042776 pathogenic Emery-Dreifuss muscular dystrophy 1, X-linked criteria provided, single submitter clinical testing The stop-gained variant c.512C>Gp.Ser171Ter in the EMD gene has been reported as a recurrent variant in patients affected with Emery-Dreifuss muscular dystrophy Brown et al., 2011. The variant is novel not in any individuals in gnomAD Exomes and 1000 Genomes. This variant is predicted to cause a loss of normal protein function through protein truncation. Loss of function variants has been previously reported to be disease causing. For these reasons, this variant has been classified as Pathogenic.

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