Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000456592 | SCV000548113 | likely pathogenic | Familial thoracic aortic aneurysm and aortic dissection | 2022-10-02 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gln511*) in the TGFBR2 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 57 amino acid(s) of the TGFBR2 protein. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. ClinVar contains an entry for this variant (Variation ID: 408438). This premature translational stop signal has been observed in individuals with TGFBR2-related conditions (PMID: 18781618, 26848186). This variant is not present in population databases (gnomAD no frequency). |