ClinVar Miner

Submissions for variant NM_004006.2(DMD):c.2804-1G>T (rs398123909)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000538642 SCV000625879 pathogenic Duchenne muscular dystrophy 2018-05-10 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 21 of the DMD gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been reported in individuals affected with Duchene Muscular Dystrophy (PMID: 16770791, 23453023, 28859693). In one of these individuals this variant was reported to be de novo (PMID: 16770791). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in DMD are known to be pathogenic (PMID: 16770791, 23453023, 25007885). For these reasons, this variant has been classified as Pathogenic.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000595227 SCV000709173 pathogenic not provided 2017-06-14 criteria provided, single submitter clinical testing
Counsyl RCV000984158 SCV001132163 likely pathogenic Becker muscular dystrophy 2017-09-22 no assertion criteria provided clinical testing
Counsyl RCV000984159 SCV001132164 likely pathogenic Dilated cardiomyopathy 3B 2017-09-22 no assertion criteria provided clinical testing
Counsyl RCV000538642 SCV001132165 likely pathogenic Duchenne muscular dystrophy 2017-09-22 no assertion criteria provided clinical testing

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