ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.2949+1G>A

dbSNP: rs1557374482
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000630515 SCV000751476 pathogenic Duchenne muscular dystrophy 2022-03-23 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 526061). Disruption of this splice site has been observed in individuals with Duchenne muscular dystrophy (PMID: 19760747). This variant is not present in population databases (gnomAD no frequency). This sequence change affects a donor splice site in intron 22 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).
Revvity Omics, Revvity RCV001784192 SCV002020482 pathogenic not provided 2022-11-22 criteria provided, single submitter clinical testing
Laboratory of Medical Genetics, National & Kapodistrian University of Athens RCV000630515 SCV002769589 pathogenic Duchenne muscular dystrophy 2022-12-16 criteria provided, single submitter clinical testing PVS1, PM2, PP5

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