Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000036292 | SCV000059944 | likely pathogenic | Hypertrophic cardiomyopathy | 2015-05-14 | criteria provided, single submitter | clinical testing | The p.Leu144Pro variant in TNNI3 has been identified by our laboratory in 1 Cauc asian individual with HCM and segregated with disease in 2 affected relatives. I t was absent from large population studies. Leucine (Leu) at position 144 is hig hly conserved in mammals and across evolutionarily distant species and the chang e to proline (Pro) was predicted to be pathogenic using a computational tool cli nically validated by our laboratory. This tool's pathogenic prediction is estima ted to be correct 94% of the time (Jordan 2011). In summary, although additional studies are required to fully establish its clinical significance, the p.Leu144 Pro variant is likely pathogenic. |