ClinVar Miner

Submissions for variant NC_000006.11:g.(?_7585983)_(7586222_?)dup

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000216530 SCV000271719 uncertain significance not specified 2015-07-01 criteria provided, single submitter clinical testing The c.(?_8488)_(*111_?)dup variant in DSP is a duplication of the terminal part of the last exon of the gene (including at least part of the 3' UTR although the distal breakpoint is unknown). This variant has not been previously reported i n individuals with cardiomyopathy but larger duplications spanning this region h ave been reported in 2 individuals without any reported clinical features (Wong 2007, DGV nsv830580; Kidd 2008, DGV nsv5189). In summary, the impact of this dup lication on protein structure and/or function, if any, cannot be determined with out additional studies and its clinical significance is uncertain.

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