ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.187-2A>G

dbSNP: rs2080514041
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001056933 SCV001221400 pathogenic Duchenne muscular dystrophy 2019-01-20 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. 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). Disruption of this splice site has been observed in several individuals affected with Becker muscular dystrophy (PMID: 19409785, 17041906, Invitae). This variant has been reported in individuals in the Leiden Open-source Variation Database (PMID: 21520333). This variant is not present in population databases (ExAC no frequency). This sequence change affects an acceptor splice site in intron 3 of the DMD gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product.

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