Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000155984 | SCV000205696 | uncertain significance | not specified | 2014-07-17 | criteria provided, single submitter | clinical testing | The Lys15272del variant in TTN has not been reported in individuals with cardiom yopathy or in large population studies. This variant is a deletion of the lysine (Lys) residue at position 15272 and is not predicted to alter the protein readi ng-frame. It is currently unclear how this deletion would impact the protein. Ad ditional information is needed to fully assess the clinical significance of the Lys15272del variant. |