ClinVar

Description

p.Ile205Val (ATT>GTT): c.613 A>G in exon 4 of the TGFBR1 gene (NM_004612.2) The I205V variant of unknown significance in the TGFBR1 gene has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. The I205V variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Although the I205V variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties, this substitution occurs at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. Missense mutations in nearby residues (T200P, T200I) have been reported in association with Loeys-Dietz syndrome, supporting the functional importance of this region of the protein. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic mutation or a rare benign variant. This variant was found in TAAD