Description
p.Asp397Gly (D397G) GAC>GGC: c.1190 A>G in exon 4 of the TGFBR2 gene (NM_003242.5)A variant of unknown significance has been identified in the TGFBR2 gene. The D397G variant has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. The D397G 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. The D397G variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other 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 (C394W, C394Y, C396W, A414T, A414P) have been reported in association with TAAD-related disorders, 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 TAADV2-PANCARD
| # | Sample | Method | Observation |
|---|
| Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences |
|---|
| 1 | germline | yes | not provided | not provided | not provided | | not provided | not provided | not provided | not provided |
