Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000156697 | SCV000206418 | uncertain significance | not specified | 2014-07-21 | criteria provided, single submitter | clinical testing | The Thr29652Ile variant in TTN has not been previously reported in individuals w ith cardiomyopathy and was absent from large population studies. Threonine (Thr) at position 29652 is not conserved in mammals or evolutionarily distant species and 3 fish species carry an isoleucine (Ile) at this position, raising the poss ibility that a change at this position may be tolerated. In summary, the clinica l significance of the Thr296582Ile variant is uncertain. |