ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.857dup (p.Tyr286Ter)

dbSNP: rs1556929259
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000630517 SCV000751478 pathogenic Duchenne muscular dystrophy 2017-10-23 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr286*) in the DMD gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with DMD-related disease. Loss-of-function variants in DMD are known to be pathogenic (PMID: 16770791, 25007885). For these reasons, this variant has been classified as Pathogenic.
Mendelics RCV000630517 SCV001141770 pathogenic Duchenne muscular dystrophy 2019-05-28 criteria provided, single submitter clinical testing

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