ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.186+1G>A

dbSNP: rs1557084067
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000549989 SCV000625851 pathogenic Duchenne muscular dystrophy 2022-07-19 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 455870). Disruption of this splice site has been observed in individuals with Duchenne muscular dystrophy and Becker muscular dystrophy (PMID: 16770791, 19367636). This variant is not present in population databases (gnomAD no frequency). This sequence change affects a donor splice site in intron 3 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). 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.
Coyote Medical Laboratory (Beijing), Coyote RCV000549989 SCV001441282 pathogenic Duchenne muscular dystrophy 2017-11-14 no assertion criteria provided clinical testing

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