ClinVar Miner

Submissions for variant NM_003242.6(TGFBR2):c.1277C>A (p.Ala426Asp) (rs730880224)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000199365 SCV000250943 pathogenic not provided 2014-07-08 criteria provided, single submitter clinical testing p.Ala426Asp (GCT>GAT): c.1277 C>A in exon 5 of the TGFBR2 gene (NM_003242.5)While the A426D mutation in the TGFBR2 gene has not been reported to our knowledge, a mutation affecting this same residue (A426T) has been reported in association with a Marfan-like phenotype (Stheneur et al., 2009). Additionally, mutations in nearby residues (M425V, P427S, P427L) have been reported in association with Loeys-Dietz syndrome or Marfan syndrome, further supporting the functional importance of this residue and this region of the protein. A426D results in a non-conservative amino acid substitution of Alanine at a position that is conserved across species. In silico analysis predicts A426D is damaging to the protein structure/function. Furthermore, A426D 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.In summary, A426D in the TGFBR2 gene is interpreted as a likely disease-causing mutation. This variant was found in TAAD

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