Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000040659 | SCV000064350 | uncertain significance | not specified | 2012-01-03 | criteria provided, single submitter | clinical testing | The Pro24302Thr variant (TTN) has not been previously reported nor previously id entified by our laboratory. Proline (Pro) at position 24302 is highly conserved in mammals and across evolutionarily distant species, increasing the likelihood that a change would not be tolerated. Computational predictions on the impact to the protein are mixed (AlignGVGD = benign, SIFT = pathogenic), though the accur acy of these tools is unknown. Additional information is needed to fully assess the clinical significance of the Pro24302Thr variant. |