ClinVar Miner

Submissions for variant NM_004006.2(DMD):c.6439-?_8217+?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 RCV000240341 SCV000299123 uncertain significance Duchenne muscular dystrophy 2016-01-26 criteria provided, single submitter clinical testing This variant is a gross duplication of the genomic region encompassing exons 45-55 of the DMD gene. The exact position of the duplicated exons cannot be determined from this data and whether the duplicated copy of this region is in tandem is unknown. Duplication of exons 45-55 have been reported in 2 individuals with either Duchenne muscular dystrophy (DMD) or Becker muscular dystrophy (PMID: 16917894). One of these two individuals harbors a second duplication of exons 65-79 which leads to an out of frame protein, this individual had a clinical diagnosis of DMD (PMID: 16917894). The impact of this duplication on DMD protein is unknown, therefore it has been classified as a Variant of Uncertain Significance.

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