ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.3188G>A (p.Trp1063Ter)

dbSNP: rs128626246
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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 RCV000012006 SCV000550323 pathogenic Duchenne muscular dystrophy 2018-09-05 criteria provided, single submitter clinical testing This variant has been observed in several individuals affected with Duchenne Muscular Dystrophy (PMID: 7951253, Invitae). ClinVar contains an entry for this variant (Variation ID: 11255). A different variant (c.3189G>A) giving rise to the same protein effect observed here (p.Trp1063*) has also been reported in an individual affected with Duchenne Muscular Dystrophy (PMID: 28318817). Loss-of-function variants in DMD are known to be pathogenic (PMID: 16770791, 25007885). For these reasons, this variant has been classified as Pathogenic. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Trp1063*) in the DMD gene. It is expected to result in an absent or disrupted protein product.
OMIM RCV000012006 SCV000032240 pathogenic Duchenne muscular dystrophy 1994-01-01 no assertion criteria provided literature only

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