ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.3432+1G>A

dbSNP: rs398123937
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000176554 SCV000228229 pathogenic not provided 2017-03-05 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000176555 SCV000255721 pathogenic Duchenne muscular dystrophy 2013-08-27 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000176554 SCV002019412 pathogenic not provided 2019-09-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000176555 SCV002179280 pathogenic Duchenne muscular dystrophy 2023-12-09 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 25 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 (gnomAD no frequency). Disruption of this splice site has been observed in individuals with Becker muscular dystrophy (PMID: 16834926, 19001018, 19783145). This variant is also known as IVS25+1G>A. ClinVar contains an entry for this variant (Variation ID: 94589). Studies have shown that disruption of this splice site results in skipping of exon 25, but is expected to preserve the integrity of the reading-frame (PMID: 19001018, 19783145). For these reasons, this variant has been classified as Pathogenic.

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