ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.3513C>A (p.Cys1171Ter)

dbSNP: rs775417975
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000181489 SCV000233792 pathogenic not provided 2015-10-27 criteria provided, single submitter clinical testing p.Cys1171Stop (TGC>TGA): c.3513 C>A in exon 29 of the FBN1 gene (NM_000138.4)The C1171X mutation in the FBN1 gene has been reported previously in one individual with Marfan syndrome (Magyar I et al., 2009). This individual had ocular and cardiovascular system involvement, but no skeletal abnormalities. Additionally, C1171X was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. C1171X is predicted to cause loss of normal protein function either by protein truncation or nonsense-mediated mRNA decay. Other nonsense mutations in the FBN1 gene have been reported in association with Marfan syndrome.In summary, C1171X in the FBN1 gene is interpreted as a disease-causing mutation.The variant is found in TAAD panel(s).

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