ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.1357C>T (p.Gln453Ter)

dbSNP: rs2057404615
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001244643 SCV001417877 pathogenic Duchenne muscular dystrophy 2019-09-29 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). 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 been observed in an individual affected with Duchenne muscular dystrophy (PMID: 21515508). This sequence change creates a premature translational stop signal (p.Gln453*) in the DMD gene. It is expected to result in an absent or disrupted protein product.

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