ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.1121dup (p.Pro374_Glu375insTer)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV004018358 SCV004848104 pathogenic Marfan syndrome 2019-01-28 criteria provided, single submitter clinical testing The p.Glu375X variant in FBN1 has not been previously reported in individuals with Marfan syndrome or in large population studies. This nonsense variant leads to a premature termination codon at position 375, which is predicted to lead to a truncated or absent protein. Heterozygous loss of function of the FBN1 gene is an established disease mechanism in Marfan syndrome. In summary, this variant meets criteria to be classified as pathogenic for Marfan syndrome in an autosomal dominant manner based upon the predicted impact to the protein and absence in controls.

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