ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.577C>T (p.Pro193Ser)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV004820745 SCV005441449 uncertain significance not provided 2024-06-27 criteria provided, single submitter clinical testing Observed in an individual with thoracic aortic aneurysm who also harbored a variant in FBN1 (PMID: 34150014); 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; Although located in a calcium-binding EGF-like domain of the FBN2 gene, it does not substitute or introduce a cysteine residue (PMID: 19006240, 18767143); This variant is associated with the following publications: (PMID: 19006240, 18767143, 34150014)

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