ClinVar Miner

Submissions for variant NM_003242.6(TGFBR2):c.859T>C (p.Trp287Arg) (rs727503472)

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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 RCV000152004 SCV000200569 likely pathogenic Loeys-Dietz syndrome 2020-03-11 criteria provided, single submitter clinical testing The p.Trp287Arg variant in TGFBR2 has been identified in 1 individual with Loeys-Dietz syndrome as a de novo variant, though maternity and paternity were not confirmed (LMM Data, Ting 2014). This variant was absent from large population data. Computational prediction tools and conservation analyses suggest an impact to the protein. In summary, although additional studies are required to fully establish its clinical significance, this variant meets criteria to be classified as likely pathogenic for autosomal dominant Loeys-Dietz syndrome. ACMG/AMP Criteria applied: PM2, PM6, PP3, PP4.

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