ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.7279T>G (p.Cys2427Gly)

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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 RCV005051203 SCV005684915 likely pathogenic Marfan syndrome 2025-01-02 no assertion criteria provided clinical testing The NM_000138.5:c.7279T>G is considered to be rare in the general population database (gnomAD v2.1.1). This variant is predicted to be deleterious by in-silico analysis (REVEL). This variant is located in functional domains. In summary, this variant was classified as a likely pathogenic variant for Marfan syndrome (PM1_S, PP2, PP3, PM2_P).

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