Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000702735 | SCV000831602 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2019-05-10 | criteria provided, single submitter | clinical testing | 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has been observed in an individual with clinical features of TGFBR1-related conditions (PMID: 27879313). This variant is not present in population databases (ExAC no frequency). This sequence change replaces lysine with arginine at codon 449 of the TGFBR1 protein (p.Lys449Arg). The lysine residue is highly conserved and there is a small physicochemical difference between lysine and arginine. |
| Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, |
RCV000845496 | SCV000987598 | uncertain significance | Aortic aneurysm, familial thoracic 6 | criteria provided, single submitter | clinical testing |