ClinVar Miner

Submissions for variant NC_000023.10:g.(?_31950260)_(32228258_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV004582799 SCV005062389 likely pathogenic Duchenne muscular dystrophy 2023-01-03 criteria provided, single submitter clinical testing This variant results in the deletion of exons 45 and part of exon 46 (c.6438+6775_6699del) of the DMD gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in DMD are known to be pathogenic (PMID: 16770791, 25007885). 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. This variant has not been reported in the literature in individuals affected with DMD-related conditions.

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