ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.9337C>T (p.Arg3113Ter)

dbSNP: rs398124092
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000254753 SCV000231921 pathogenic not provided 2016-08-03 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000179641 SCV000255758 pathogenic Duchenne muscular dystrophy 2013-08-20 criteria provided, single submitter clinical testing
GeneDx RCV000254753 SCV000322280 pathogenic not provided 2025-01-17 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: 17259292, 17041906, 25525159, 15643612, 21972111, 31081998, 32559196, 19602481)
Revvity Omics, Revvity RCV000254753 SCV002018581 pathogenic not provided 2021-06-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000179641 SCV002166563 pathogenic Duchenne muscular dystrophy 2023-09-18 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 94839). This premature translational stop signal has been observed in individuals with Duchenne muscular dystrophy (PMID: 12632325, 15723292, 19602481, 23536893, 25761239, 26968818, 28181689). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg3113*) 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).
Natera, Inc. RCV001826766 SCV002080173 pathogenic Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency 2017-05-09 no assertion criteria provided clinical testing

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