Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000152199 | SCV000200955 | uncertain significance | not specified | 2013-11-20 | criteria provided, single submitter | clinical testing | The Val25965_Gly25966del variant in TTN has not been previously reported in indi viduals with cardiomyopathy or in large population studies. This variant is a de letion of 2 amino acids at position 25965 and is not predicted to alter the prot ein reading-frame. Computational tools suggest an impact to splicing. However, t his information is not predictive enough to determine pathogenicity. This data r aises the possibility that the Val25965_Gly25966del variant may be pathogenic bu t additional studies are needed to fully assess its clinical significance. |