ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.2861G>A (p.Trp954Ter)

dbSNP: rs886043909
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000280863 SCV000342589 pathogenic not provided 2016-06-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV005090387 SCV005743306 pathogenic Duchenne muscular dystrophy 2024-03-16 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp954*) in the DMD gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in DMD are known to be pathogenic (PMID: 16770791, 25007885). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with Duchenne Muscular Dystrophy, Becker Muscular Dystrophy (PMID: 19937601). ClinVar contains an entry for this variant (Variation ID: 288476). For these reasons, this variant has been classified as Pathogenic.

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