ClinVar Miner

Submissions for variant NM_000117.3(EMD):c.188-6A>G

dbSNP: rs2148128297
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV001801337 SCV002047550 pathogenic X-linked Emery-Dreifuss muscular dystrophy 2021-09-15 criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV001801337 SCV003345335 uncertain significance X-linked Emery-Dreifuss muscular dystrophy 2022-04-12 criteria provided, single submitter clinical testing This sequence change falls in intron 2 of the EMD gene. It does not directly change the encoded amino acid sequence of the EMD protein. This variant is not present in population databases (gnomAD no frequency). This variant has been observed in individual(s) with Emery-Dreifuss muscular dystrophy (PMID: 34524739). ClinVar contains an entry for this variant (Variation ID: 1330306). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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