ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.6595G>A (p.Gly2199Ser)

gnomAD frequency: 0.00001  dbSNP: rs770132403
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000697791 SCV000826422 uncertain significance Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2018-08-05 criteria provided, single submitter clinical testing This sequence change replaces glycine with serine at codon 2199 of the FBN1 protein (p.Gly2199Ser). The glycine residue is moderately conserved and there is a small physicochemical difference between glycine and serine. This variant is present in population databases (rs770132403, ExAC 0.006%). This variant has been observed in an individual with aortic dissection (PMID: 28973303). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
AiLife Diagnostics, AiLife Diagnostics RCV002223916 SCV002503170 uncertain significance not provided 2021-12-21 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV003999672 SCV004840108 uncertain significance Marfan syndrome 2024-08-08 criteria provided, single submitter clinical testing

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