ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.2293-2A>G

dbSNP: rs2148691779
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV004531554 SCV004106958 pathogenic DMD-related disorder 2023-08-01 criteria provided, single submitter clinical testing The DMD c.2293-2A>G variant is predicted to disrupt the AG splice acceptor site and interfere with normal splicing. This variant was reported in an individual with Duchenne muscular dystrophy (Luce et al. 2018. PubMed ID: 30342905). In addition, numerous other variants altering this canonical splice junction have also been reported in affected individuals (Human Gene Mutation Database; Kumar et al. 2020. PubMed ID: 32559196). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Variants that disrupt the consensus splice acceptor site in DMD are expected to be pathogenic. This variant is interpreted as pathogenic.
Athena Diagnostics RCV004999930 SCV005621203 pathogenic not provided 2024-09-16 criteria provided, single submitter clinical testing This variant is expected to severely impact normal RNA splicing, and consequently, protein structure and/or function. This variant has not been reported in large, multi-ethnic general populations. (http://gnomad.broadinstitute.org) This variant has been identified in at least one individual with DMD.

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