ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.6563T>G (p.Phe2188Cys)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV003454387 SCV004185536 likely pathogenic Marfan syndrome 2023-12-21 criteria provided, single submitter clinical testing This variant has not been reported in the literature in association with disease and is not present in gnomAD. This variant introduces a novel cysteine residue which may impede the normal formation of critical disulfide bridges, and occurs at a position in the consensus calcium-binding sequence within a calcium-binding EGF-like domain (Jensen 2005 PMID: 15649891). Evolutionary conservation and computational predictive algorithms support that this variant likely impacts protein structure or function. In summary, data on this variant is highly suspicious for disease, but requires further evidence for pathogenicity. Therefore, this variant is classified as likely pathogenic.

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