Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000156377 | SCV000206095 | uncertain significance | not specified | 2014-02-13 | criteria provided, single submitter | clinical testing | The Pro14084Leu variant in TTN has not been previously reported in individuals w ith cardiomyopathy or in large population studies. Computational prediction tool s are limited for this variant but proline (Pro) at position 14084 is conserved in mammals and evolutionarily distant species, raising the possibility that a ch ange at this position may not be tolerated. Additional information is needed to fully assess the clinical significance of the Pro14084Leu variant. |