Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000195732 | SCV000250784 | likely pathogenic | not provided | 2019-03-08 | criteria provided, single submitter | clinical testing | Has not been previously reported as pathogenic or benign to our knowledge; Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect |
Invitae | RCV001242563 | SCV001415658 | pathogenic | Familial thoracic aortic aneurysm and aortic dissection | 2023-07-25 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the SMAD3 protein in which other variant(s) (p.Arg93Gln) have been determined to be pathogenic (PMID: 29543232; Invitae). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. ClinVar contains an entry for this variant (Variation ID: 213789). This variant has been observed in individuals with SMAD3-related conditions (Invitae). This variant, c.275_281delinsC, is a complex sequence change that results in the deletion of 3 and insertion of 1 amino acid(s) in the SMAD3 protein (p.Trp92_Trp94delinsSer). |
Seelig Lab, |
RCV000195732 | SCV000897891 | not provided | not provided | no assertion provided | in vitro |