ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.1603-2A>G

dbSNP: rs773779441
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001942057 SCV002228636 pathogenic Duchenne muscular dystrophy 2020-12-10 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 13 of the DMD gene. RNA analysis indicates that disruption of this splice site induces altered splicing and likely results in a shortened protein product. This variant is not present in population databases (ExAC no frequency). Disruption of this splice site has been observed in individual(s) with dilated cardiomyopathy and Becker muscular dystrophy (PMID: 21851881, 16077730). Studies have shown that disruption of this splice site is associated with skipping of exons 14 and 15 but is expected to preserve the integrity of the reading frame (PMID: 16077730). For these reasons, this variant has been classified as Pathogenic.

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