ClinVar Miner

Submissions for variant NM_000138.4(FBN1):c.3656A>G (p.Tyr1219Cys) (rs1555398394)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV000788488 SCV000927627 likely pathogenic not provided 2018-04-12 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000663660 SCV000967702 likely pathogenic Marfan syndrome 2018-03-20 criteria provided, single submitter clinical testing The p.Tyr1219Cys variant in FBN1 has been reported in at least 2 individuals wit h clinical features of Marfan syndrome (Arbustini 2005), including a de novo occ urrence in one individual. This variant was absent in large population studies. Computational prediction tools and conservation analysis suggest that the p.Tyr1 219Cys variant may impact the protein. In summary, although additional studies a re required to fully establish its clinical significance, the p.Tyr1219Cys varia nt is likely pathogenic. ACMG/AMP Criteria applied: PM2, PM6, PP3, PS4_supportin g.
Center for Medical Genetics Ghent,University of Ghent RCV000663660 SCV000786988 likely pathogenic Marfan syndrome 2017-11-07 no assertion criteria provided clinical testing

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