ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.3603+1G>A

dbSNP: rs1209389771
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000990683 SCV001141706 pathogenic Duchenne muscular dystrophy 2024-03-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000990683 SCV003247471 pathogenic Duchenne muscular dystrophy 2022-03-01 criteria provided, single submitter clinical testing Disruption of this splice site has been observed in individual(s) with Duchenne muscular dystrophy (PMID: 23536893). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change affects a donor splice site in intron 26 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. ClinVar contains an entry for this variant (Variation ID: 803890). For these reasons, this variant has been classified as Pathogenic. Studies have shown that disruption of this splice site results in activation of a cryptic splice site and introduces a premature termination codon (PMID: 23536893). The resulting mRNA is expected to undergo nonsense-mediated decay.

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