ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.6380A>T (p.Asp2127Val)

dbSNP: rs2141240523
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre of Medical Genetics, University of Antwerp RCV002246051 SCV002025390 likely pathogenic Marfan syndrome 2021-03-01 criteria provided, single submitter research PM2, PS7, PP4
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001799127 SCV002042008 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2019-07-03 criteria provided, single submitter clinical testing
Department of Laboratory Medicine and Genetics, Samsung Medical Center RCV002246051 SCV005684902 pathogenic Marfan syndrome 2025-01-02 no assertion criteria provided clinical testing The NM_000138.5:c.6380A>T 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 and a different missense variant at the same residue is determined to be pathogenic (c.6379G>A, p.Asp2127Asn and c.6379G>T, p.Asp2127Tyr). This variant was found in a patient with Marfan syndrome (PMID: 20538085; 35058154). This variant was found in a patient with Marfan syndrome meeting revised Ghent criteria (aortic root dilatation and a systemic score of 11 points) (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 pathogenic variant for Marfan syndrome (PM1, PM5, PS4_M, PP2, PP3, PP4 with weighted strength, PM2_P).

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