Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000527549 | SCV000658843 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2017-06-27 | criteria provided, single submitter | clinical testing | This sequence change replaces serine with phenylalanine at codon 434 of the TGFBR1 protein (p.Ser434Phe). The serine residue is highly conserved and there is a large physicochemical difference between serine and phenylalanine. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with TGFBR1-related disease. This variant is not present in population databases (ExAC no frequency). |