ClinVar Miner

Submissions for variant NM_000138.4(FBN1):c.6828T>G (p.Cys2276Trp)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Petrovsky Russian Research Center of Surgery, The Federal Agency for Scientific Organizations RCV000791239 SCV000929749 likely pathogenic Marfan syndrome 2015-05-26 criteria provided, single submitter clinical testing The c.6828T>G variant is absent from large population studies. This missense variant been evaluated with in silico method by predictors (NetGene2, SpliceSite predictors, Provean, SIFT, PolyPhen2). All programs show results that variant p.C2276W likely to have Damaging effect. In addition, FBN1 known to be more intolerant to missense variants (ExAC Z score = 5.33).
Sangiuolo Lab - Medical Genetics Laboratory, Tor Vergata University RCV000791239 SCV000986997 likely pathogenic Marfan syndrome 2019-06-06 no assertion criteria provided clinical testing

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