ClinVar Miner

Submissions for variant NM_000117.3(EMD):c.399+2T>C

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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 RCV003640017 SCV004432687 pathogenic X-linked Emery-Dreifuss muscular dystrophy 2023-02-02 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 4 of the EMD gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in EMD are known to be pathogenic (PMID: 24365856). This variant is not present in population databases (gnomAD no frequency). Disruption of this splice site has been observed in individual(s) with Emery-Dreifuss muscular dystrophy (PMID: 9536090). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. For these reasons, this variant has been classified as Pathogenic.

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