ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.460T>C (p.Cys154Arg)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Laboratory Medicine and Genetics, Samsung Medical Center RCV005051195 SCV005684900 likely pathogenic Marfan syndrome 2025-01-02 no assertion criteria provided clinical testing The NM_000138.5:c.460T>C is considered to be rare in the general population database (gnomAD v2.1.1). This variant is predicted to be deletrious by in-silico analysis (REVEL). This variant is located in functional domains and a different missense variant at the same residue is determined to be pathogenic (c.461G>C, p.Cys154Ser). In summary, this variant was classified as a likely pathogenic variant for Marfan syndrome (PM1, PM5, PP2, PP3, PM2_P).

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