ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.8377T>C (p.Tyr2793His)

dbSNP: rs113722038
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations RCV000664021 SCV000965664 uncertain significance Marfan syndrome 2019-08-14 criteria provided, single submitter clinical testing The p.Tyr2793His variant was reported in one individual of unknown causality with Marfan Syndrome (PMID: 21542060) and is absent from population studies (ExAC no frequency). This variant has a ClinVar entry (Variation ID:549461). The Tyrosine to Histidine is a non conserved Substitution occuring in FibuCTDIII-like motif, which potentially affects its ability in protein-protein interactions. FBN1 is known to be more intolerant to missense variants (ExAC Z score = 5.33). Computational tools like Provean, PolyPhen2, MutationTaster all show damaging effect. Basing on this evidences p.Tyr2793His is classified as Uncertain Significance, leaning more towards Pathogenic spectrum, though without functional study Benign result can't be excluded.
Centre of Medical Genetics, University of Antwerp RCV000664021 SCV002025476 likely pathogenic Marfan syndrome 2021-03-01 criteria provided, single submitter research PM2, PS1, PP4
Center for Medical Genetics Ghent, University of Ghent RCV000664021 SCV000787411 uncertain significance Marfan syndrome 2017-11-07 no assertion criteria provided clinical testing

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