Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000807802 | SCV000947876 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2018-11-20 | 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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). This sequence change replaces arginine with serine at codon 482 of the TGFBR1 protein (p.Arg482Ser). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and serine. |
Baylor Genetics | RCV001336712 | SCV001530174 | likely pathogenic | Loeys-Dietz syndrome 1 | 2018-11-27 | criteria provided, single submitter | clinical testing | This variant was determined to be likely pathogenic according to ACMG Guidelines, 2015 [PMID:25741868]. |