ClinVar Miner

Submissions for variant NM_000138.4(FBN1):c.7094G>A (p.Cys2365Tyr) (rs397515845)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000035264 SCV000058911 likely pathogenic Marfan syndrome 2017-11-22 criteria provided, single submitter clinical testing The p.Cys2365Tyr variant in FBN1 has now been identified in 4 individuals with c linical features of Marfan Syndrome (at least one meets Ghent criteria) and segr egated with disease in 2 affected relatives from 1 family (Comeglio 2007, Rand- Hendriksen 2007, Tjeldhorn 2006, LMM data). In addition, this variant has not be en identified in large population studies. Computational prediction tools and co nservation analysis suggest that the p.Cys2365Tyr variant may impact the protein , though this information is not predictive enough to determine pathogenicity. T his variant affects a cysteine residue; cysteine substitutions are a common find ing in individuals with Marfan syndrome (Schrijver 1999). In summary, although a dditional studies are required to fully establish its clinical significance, thi s variant is likely pathogenic. ACMG/AMP Criteria applied: PM2, PM1, PP3, PP4, P P1.
Center for Medical Genetics Ghent,University of Ghent RCV000035264 SCV000787300 likely pathogenic Marfan syndrome 2017-11-07 no assertion criteria provided clinical testing

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