ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.264+1G>A

dbSNP: rs1569533147
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000728957 SCV000856586 pathogenic not provided 2017-09-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003512073 SCV004298942 pathogenic Duchenne muscular dystrophy 2023-03-02 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Studies have shown that disruption of this splice site results in skipping of exon 4, but is expected to preserve the integrity of the reading-frame (PMID: 32504006). ClinVar contains an entry for this variant (Variation ID: 593815). Disruption of this splice site has been observed in individual(s) with dystrophinopathy (PMID: 25972034, 28859693, 32504006). This variant is not present in population databases (gnomAD no frequency). This sequence change affects a donor splice site in intron 4 of the DMD gene. RNA analysis indicates that disruption of this splice site induces altered splicing and likely results in a shortened protein product.

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