Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000156267 | SCV000205983 | uncertain significance | not specified | 2014-01-17 | criteria provided, single submitter | clinical testing | The Ser29599Pro variant in TTN has not been previously reported in individuals w ith cardiomyopathy or in large population studies. The affected amino acid is n ot well conserved in evolution, raising the possibility that a change may be tol erated. Other computational analyses (biochemical amino acid properties, AlignGV GD, PolyPhen2, and SIFT) do not provide strong support for or against an impact to the protein. Additional information is needed to fully assess the clinical si gnificance of this variant. |