ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.2804-1G>C

dbSNP: rs398123909
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001042956 SCV001206665 pathogenic Duchenne muscular dystrophy 2023-09-29 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. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in DMD are known to be pathogenic (PMID: 16770791, 25007885). This variant is not present in population databases (gnomAD no frequency). Disruption of this splice site has been observed in individuals with Becker or Duchenne muscular dystrophy (PMID: 17041906, 20485447, 27593222, 28859693, 29973226). ClinVar contains an entry for this variant (Variation ID: 840853). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
Revvity Omics, Revvity RCV001784585 SCV002021034 pathogenic not provided 2020-01-21 criteria provided, single submitter clinical testing

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