Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000810644 | SCV000950866 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2023-07-26 | 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. Advanced modeling performed at Invitae incorporating data from internal and/or published experimental studies (Invitae) indicates that this missense variant is expected to disrupt TGFBR2 function. ClinVar contains an entry for this variant (Variation ID: 654639). This missense change has been observed in individual(s) with clinical features of TGFBR2-related conditions (PMID: 27879313; Invitae). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces serine, which is neutral and polar, with phenylalanine, which is neutral and non-polar, at codon 401 of the TGFBR2 protein (p.Ser401Phe). |
Gene |
RCV001571560 | SCV001796062 | uncertain significance | not provided | 2020-01-22 | criteria provided, single submitter | clinical testing | Reported in two patients with aortic disease registered with the Montalcino Aortic Consortium (Jondeau et al., 2016); Not observed in large population cohorts (Lek et al., 2016); Reported in ClinVar as a variant of uncertain significance (ClinVar Variant ID# 654639; Landrum et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 27879313, 9395234) |