ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.5240_5251del (p.Leu1747_Ser1750del)

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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 RCV005051190 SCV005684888 likely pathogenic Marfan syndrome 2025-01-02 no assertion criteria provided clinical testing The NM_000138.5:c.5240_5251del, in-frame deletion variant is considered to be rare in the general population database (gnomAD v2.1.1). This variant was found in a patient with Marfan syndrome meeting revised Ghent criteria (aortic root dissection and ectopia lentis) (Samsung Medical Center internal data). According to the ClinGen guidance for PP1/BS4 and PP4 criteria (PMID: 38103548), PP4 with weighted strength was applied. In summary, this variant was classified as a likely pathogenic variant for Marfan syndrome (PM4, PP4 with weighted strength, PM2_P).

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