ClinVar Miner

Submissions for variant NM_000117.3(EMD):c.256C>T (p.Gln86Ter)

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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 RCV003523391 SCV004299695 pathogenic X-linked Emery-Dreifuss muscular dystrophy 2023-11-28 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln86*) in the EMD gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in EMD are known to be pathogenic (PMID: 24365856). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with Emery-Dreifuss muscular dystrophy (PMID: 21697856). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.

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