ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.7089CTG[1] (p.Cys2365del)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002898919 SCV003236310 likely pathogenic Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2022-09-22 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This variant, c.7092_7094del, results in the deletion of 1 amino acid(s) of the FBN1 protein (p.Cys2365del), but otherwise preserves the integrity of the reading frame. This variant has been observed in individual(s) with Marfan syndrome (Invitae). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. This variant affects a cysteine residue in the EGF-like, TGFBP or hybrid motif domains of FBN1. Cysteine residues are believed to be involved in intramolecular disulfide bridges and have been shown to be important for FBN1 protein structure (PMID: 16905551, 19349279). In addition, missense substitutions affecting cysteine residues within these domains are significantly overrepresented among patients with Marfan syndrome (PMID: 16571647, 17701892). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown.

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