Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000551498 | SCV000658859 | pathogenic | Familial thoracic aortic aneurysm and aortic dissection | 2017-10-14 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in TGFBR1 are known to be pathogenic in the context of multiple self-healing squamous epithelioma (PMID: 21358634). 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 creates a premature translational stop signal (p.Gly261*) in the TGFBR1 gene. It is expected to result in an absent or disrupted protein product. |