ClinVar Miner

Submissions for variant NM_004006.2(DMD):c.3432+2036A>G (rs182575709)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000537797 SCV000625893 likely pathogenic Duchenne muscular dystrophy 2017-06-19 criteria provided, single submitter clinical testing This sequence change falls in intron 25 of the DMD gene. It does not directly change the encoded amino acid sequence of the DMD protein. This variant has been reported in an individual affected with subclinical Becker muscular dystrophy (BMD) (PMID: 12754707). It has also been reported in 3 additional individuals affected with BMD in the Leiden Open-source Variation Database (PMID: 16770791). Experimental studies have shown that this intronic sequence change leads to the inclusion of a pseudoexon which creates a premature termination codon (PMID: 12754707). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
OMIM RCV000012039 SCV000032273 pathogenic Becker muscular dystrophy 2003-06-01 no assertion criteria provided literature only

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