ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.6357G>A (p.Trp2119Ter)

dbSNP: rs1603628483
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000990635 SCV001141651 pathogenic Duchenne muscular dystrophy 2019-05-28 criteria provided, single submitter clinical testing
Invitae RCV000990635 SCV002186698 pathogenic Duchenne muscular dystrophy 2022-04-10 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp2119*) 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 clinical features of dystrophinopathy (PMID: 27363342, 28859693). ClinVar contains an entry for this variant (Variation ID: 803851). For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV001784496 SCV002574220 pathogenic not provided 2022-03-14 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Based on the understanding of this genetic alteration, it may be amenable to nonsense read-through therapy that is currently available or in clinical trial; This variant is associated with the following publications: (PMID: 34297739, 27363342)

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