ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.4518+2T>G

dbSNP: rs2147610382
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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 RCV001384089 SCV001583473 pathogenic Duchenne muscular dystrophy 2020-06-16 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 32 of the DMD gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). Disruption of this splice site has been observed in individual(s) with Duchenne muscular dystrophy (PMID: 29973226, 28859693). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in DMD are known to be pathogenic (PMID: 16770791, 25007885). For these reasons, this variant has been classified as Pathogenic.

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