ClinVar Miner

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

dbSNP: rs398123938
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000080581 SCV000112483 pathogenic not provided 2017-03-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002514414 SCV003444583 pathogenic Duchenne muscular dystrophy 2021-12-31 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Other variant(s) that result in skipping of exon 25 have been determined to be pathogenic (PMID: 19001018, 19783145). This suggests that this variant may also be clinically significant and likely to be disease-causing. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Studies have shown that this variant results in skipping of exon 25, but is expected to preserve the integrity of the reading-frame (PMID: 18348289). ClinVar contains an entry for this variant (Variation ID: 94592). This variant has been observed in individual(s) with Becker muscular dystrophy (PMID: 18348289; Invitae). This variant is not present in population databases (gnomAD no frequency). 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. RNA analysis indicates that this variant induces altered splicing and likely results in a shortened protein product.
Revvity Omics, Revvity RCV000080581 SCV003830574 likely pathogenic not provided 2022-01-27 criteria provided, single submitter clinical testing

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