Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000040318 | SCV000064009 | uncertain significance | not specified | 2011-12-13 | criteria provided, single submitter | clinical testing | The Pro14315Ser variant (TTN) has not been previously reported nor previously id entified by our laboratory. Proline (Pro) at position 14315 is highly conserved across evolutionarily distant species, increasing the likelihood that a change m ay not be tolerated. Computational tools (AlignGVGD and SIFT) predict the change to serine (Ser) would impact the protein, though the accuracy of these tools is unknown. Additional information is needed to fully assess the clinical signific ance of the Pro14315Ser variant. |