ClinVar Miner

Submissions for variant NM_000117.3(EMD):c.153del (p.Ser52fs)

dbSNP: rs876661345
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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 RCV001388437 SCV001589434 pathogenic X-linked Emery-Dreifuss muscular dystrophy 2020-05-12 criteria provided, single submitter clinical testing Loss-of-function variants in EMD are known to be pathogenic (PMID: 24365856). For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Ser52Alafs*13) in the EMD gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with X-linked Emery-Dreifuss muscular dystrophy (PMID: 9536090, 19997654). This variant is also known as nt386 delC in the literature.

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