Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000155913 | SCV000205624 | uncertain significance | not specified | 2013-08-11 | criteria provided, single submitter | clinical testing | The Gly24733Ser variant in TTN has not been reported in the literature or in lar ge population studies. Computational analyses (biochemical amino acid properties , conservation, AlignGVGD, PolyPhen2, and SIFT) do not provide strong support fo r or against an impact to the protein. Additional information is needed to fully assess the clinical significance of the Gly24733Ser variant. |