ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.10797+2T>A

dbSNP: rs2036834025
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001038643 SCV001202122 pathogenic Duchenne muscular dystrophy 2019-03-20 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 75 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 individuals affected with Duchenne muscular dystrophy (PMID: 29604111, Invitae). 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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