ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.1589-1217G>T

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, Cologne University RCV003445421 SCV004174144 likely pathogenic Marfan syndrome 2023-10-17 criteria provided, single submitter clinical testing
GeneDx RCV005001380 SCV005626760 pathogenic not provided 2024-07-08 criteria provided, single submitter clinical testing Non-canonical splice site variant demonstrated to result in loss of function (PMID: 36861389); Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 36861389)
Clinical and Biomedical Sciences, University of Exeter RCV003445421 SCV005888569 pathogenic Marfan syndrome 2025-02-28 criteria provided, single submitter research Previously reported to create 202bp pseudoexon r.1588_1589ins202 and p.Asp530ValfsTer8 (PMID:36861389). Significant enrichment in cases vs controls in 100k Genomes Project.

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