ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.9216C>G (p.Tyr3072Ter)

dbSNP: rs794727820
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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) RCV000179602 SCV000231873 pathogenic not provided 2015-03-09 criteria provided, single submitter clinical testing
GeneDx RCV000179602 SCV005685709 pathogenic not provided 2024-07-27 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); 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; 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: 28859693, 20485447, 32746448)

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