ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.1928G>A (p.Trp643Ter)

dbSNP: rs2149094851
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV001781785 SCV002018646 pathogenic not provided 2022-07-05 criteria provided, single submitter clinical testing
GeneDx RCV001781785 SCV003762025 pathogenic not provided 2023-01-23 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 trials for males; This variant is associated with the following publications: (PMID: 30342905)

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