Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000220074 | SCV000272530 | uncertain significance | not specified | 2016-01-08 | criteria provided, single submitter | clinical testing | Variant classified as Uncertain Significance - Favor Pathogenic. The p.Arg205Pro variant in TNNT2 has not been previously reported in individuals with cardiomyo pathy or in large population studies. Arginine (Arg) at position 205 is highly conserved in mammals and across evolutionarily distant species and the change to proline (Pro) was predicted to be pathogenic using a computational tool clinica lly validated by our laboratory. This tool's pathogenic prediction is estimated to be correct 94% of the time (Jordan 2011). In summary, while there is some sus picion for a pathogenic role, the clinical significance of the p.Arg205Pro varia nt is uncertain. |
Institute Of Human Genetics Munich, |
RCV000995904 | SCV001150296 | likely pathogenic | Dilated cardiomyopathy 1D | 2019-07-26 | criteria provided, single submitter | clinical testing |