ClinVar Miner

Submissions for variant NM_003242.6(TGFBR2):c.1066C>G (p.Arg356Gly) (rs199660234)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000197867 SCV000250931 pathogenic not provided 2014-05-15 criteria provided, single submitter clinical testing p.Arg356Gly (CGG>GGG): c.1066 C>G in exon 4 of the TGFBR2 gene (NM_003242.5) While the R356G mutation in the TGFBR2 gene has not been reported to our knowledge, a mutation affecting this same residue, R356P, has been reported in association with Loeys Dietz syndrome (LDS) (Ki C et al., 2005). Additionally, mutations in nearby residues (G351D, A355P, G357R, G357W, H360P) have been reported in association with LDS, further supporting the functional importance of this residue and this region of the protein. R356G results in a non-conservative amino acid substitution at a position that is conserved across species. In silico analysis predicts R356G is probably damaging to the protein structure/function. Furthermore, R356G 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, R356G in the TGFBR2 gene is interpreted as a likely disease-causing mutation. This variant was found in TAAD

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