ClinVar Miner

Submissions for variant NC_000023.11:g.(?_31679365)_(31679596_?)dup

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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 RCV001031895 SCV001195202 likely pathogenic Duchenne muscular dystrophy 2019-06-27 criteria provided, single submitter clinical testing This variant results in a copy number gain of the genomic region encompassing exon 53 of the DMD gene. While the exact position of this variant cannot be determined from this data, sub-genic copy number gains are generally in tandem (PMID: 25640679) and may result in an absent or disrupted protein product. A copy number gain of exon 53 has been observed in an individual affected with Duchenne or Becker muscular dystrophy (PMID: 16030524, 16917894). 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.

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