Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000221511 | SCV000272782 | uncertain significance | not specified | 2015-08-12 | criteria provided, single submitter | clinical testing | The p.Thr25464Asn variant in TTN has not been previously reported in individuals with cardiomyopathy and was absent from large population studies. Threonine (Th r) at position 2564 is not conserved in evolution and 1 mammal (armadillo) as we ll as several lower species carry an asparagine (Asn) at this position, raising the possibility that this change may be tolerated. In summary, the clinical sign ificance of the p.Thr25464Asn variant is uncertain. |