ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.4099T>C (p.Cys1367Arg)

dbSNP: rs1555397670
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV004777815 SCV005389391 likely pathogenic not provided 2024-04-29 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Affects a cysteine residue within a calcium-binding EGF-like domain of the FBN1 gene, which may affect disulfide bonding and is predicted to alter the structure and function of the protein; cysteine substitutions in the calcium-binding EGF-like domains represent the majority of pathogenic missense changes associated with FBN1-related disorders (PMID: 12938084); This variant is associated with the following publications: (PMID: 12938084, 16835936)
Center for Medical Genetics Ghent, University of Ghent RCV000663696 SCV000787028 pathogenic Marfan syndrome 2017-11-07 no assertion criteria provided clinical testing

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