ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.3008_3009del (p.Val1003fs)

dbSNP: rs2040303197
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001247055 SCV001420453 pathogenic Duchenne muscular dystrophy 2019-11-13 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in DMD are known to be pathogenic (PMID: 16770791, 25007885). This variant has not been reported in the literature in individuals with DMD-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Val1003Glufs*10) in the DMD gene. It is expected to result in an absent or disrupted protein product.

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