ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.2623-1G>T

dbSNP: rs794729005
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000183424 SCV000235883 pathogenic not provided 2014-11-06 criteria provided, single submitter clinical testing c.2623-1 G>T: IVS20-1 G>T in intron 20 of the DMD gene (NM_004006.2). The c.2623-1 G>T splice site mutation in the DMD gene destroys the canonical splice acceptor site in intron 20. It is predicted to cause abnormal gene splicing, either leading to an abnormal message that is subject to nonsense-mediated mRNA decay, or to an abnormal protein product if the message is used for protein translation. It was not observed with any significant frequency in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project. Other splicing mutations affecting intron 20, specifically c.2623-2 A>G and c.2623-3 C>G, have been reported in association with dystrophinopathies (Takeshima et al., 2010; Sedlackova et al., 2009). Although c.2623-1 G>T has not been previously reported to out knowledge, it is expected to be a pathogenic mutation. The variant is found in DMD-CRDM panel(s).
Revvity Omics, Revvity RCV000183424 SCV003829243 likely pathogenic not provided 2024-01-18 criteria provided, single submitter clinical testing

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