ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.5350G>T (p.Glu1784Ter)

dbSNP: rs777864641
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000201039 SCV000255734 pathogenic Duchenne muscular dystrophy 2012-09-17 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000506941 SCV000603370 pathogenic not specified 2017-02-21 criteria provided, single submitter clinical testing
GeneDx RCV003317147 SCV004021775 pathogenic not provided 2023-02-28 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); Has not been previously published as pathogenic or benign to our knowledge; 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: 25525159, 12233050)

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