ClinVar Miner

Submissions for variant NM_003242.6(TGFBR2):c.1279C>T (p.Pro427Ser) (rs863223850)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000195460 SCV000250944 pathogenic not provided 2015-05-18 criteria provided, single submitter clinical testing p.Pro427Ser (P427S) (CCA>TCA): c.1279 C>T in exon 5 of the TGFBR2 gene (NM_003242.5) The P427S mutation in the TGFBR2 gene has been reported in a single patient with aortic root aneurysm and dissection, splenic rupture and inguinal hernia (Loeys et al., 2006). P427S results in a non-conservative amino acid substitution of Proline at a position that is conserved across species. A mutation in the same residue (P427L) and in nearby residues (M425V, A426T) have been reported in association with Loeys-Dietz syndrome or Marfan syndrome, further supporting the functional importance of this region of the protein. Furthermore, the P427S mutation 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, P427S in the TGFBR2 gene is interpreted as a disease-causing mutation. This variant was found in TAADV2-PANCARD

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