Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000152256 | SCV000201081 | uncertain significance | not specified | 2014-10-10 | criteria provided, single submitter | clinical testing | The p.Ile19024Val variant in TTN gene has not been previously reported in indivi duals with cardiomyopathy or in large population studies. Isoleucine (Ile) at po sition 19024 is highly conserved in the majority of mammals and lower species, t hough dolphin and killer whale carry a valine (Val) at this position, raising th e possibility that this change may be tolerated. Additional computational predic tion tools do not provide strong support for or against an impact to the protein . In summary, the clinical significance of the p.Ile19024Val variant is uncertai n. |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000152256 | SCV002051413 | uncertain significance | not specified | 2021-12-28 | criteria provided, single submitter | clinical testing |