ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.2380+1G>A

dbSNP: rs398123884
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000990714 SCV001141740 pathogenic Duchenne muscular dystrophy 2019-05-28 criteria provided, single submitter clinical testing
Invitae RCV000990714 SCV003445040 pathogenic Duchenne muscular dystrophy 2022-09-07 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. Studies have shown that disruption of this splice site results in skipping of exon 19 and introduces a premature termination codon (PMID: 25007885). The resulting mRNA is expected to undergo nonsense-mediated decay. ClinVar contains an entry for this variant (Variation ID: 803916). Disruption of this splice site has been observed in individual(s) with Duchenne muscular dystrophy (PMID: 25007885). In at least one individual the variant was observed to be de novo. This sequence change affects a donor splice site in intron 19 of the DMD gene. RNA analysis indicates that disruption of this splice site induces altered splicing and may result in an absent or disrupted protein product.

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