Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular 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. |