ClinVar Miner

Submissions for variant NM_003242.6(TGFBR2):c.1495G>T (p.Glu499Ter) (rs397516840)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000037735 SCV000061397 likely pathogenic Loeys-Dietz syndrome 2012-04-09 criteria provided, single submitter clinical testing The Glu499X variant (TGFBR2) has not been reported in the literature nor previou sly identified by our laboratory. This nonsense variant is located within the se rine-threonine kinase domain and leads to a premature termination codon at posit ion 499, which is predicted to lead to a truncated or absent protein. Two nonsen se variants in TGFBR2 in close proximity to this variant have been previously re ported as pathogenic (Arg495X and Arg497X). The Arg495X variant was reported in an individual with Loeys-Dietz syndrome and a histological assessment of the ind ividual?s aortic tissue supported increased TGF-beta signaling (Loeys 2006). The Arg497X variant was reported in an individual with dilated ascending aorta with out dissection and skeletal system involvement (Singh 2006). In summary, this va riant is likely to be pathogenic, though segregation studies and functional anal yses are required to fully establish the pathogenicity of this variant.

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