Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV000415841 | SCV000493321 | uncertain significance | not provided | 2016-08-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001865304 | SCV002200316 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2021-08-30 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine with cysteine at codon 168 of the TGFBR1 protein (p.Arg168Cys). The arginine residue is moderately conserved and there is a large physicochemical difference between arginine and cysteine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with TGFBR1-related conditions. ClinVar contains an entry for this variant (Variation ID: 374537). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt TGFBR1 protein function. 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. |