ClinVar Miner

Submissions for variant NM_000109.4(DMD):c.9626-4_9631del (rs1060502653)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000467852 SCV000550322 likely pathogenic Duchenne muscular dystrophy 2016-08-24 criteria provided, single submitter clinical testing This sequence change affects acceptor splice site in intron 66 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) and has not been reported in the literature in individuals with a DMD-related disease. In summary, donor and acceptor splice site variants are typically loss-of-function (PMID: 16199547), and loss-of-function variants in DMD are known to be pathogenic (PMID: 16770791). However, without additional functional and/or genetic data, this variant has been classified as Likely Pathogenic.

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