ClinVar Miner

Submissions for variant NM_000138.4(FBN1):c.4337-2A>G (rs794728216)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000617859 SCV000738858 pathogenic Cardiovascular phenotype 2016-12-14 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Detected in individual satisfying established diagnostic critera for classic disease without a clear mutation,Alterations at the canonical donor/acceptor sites (+/- 1, 2) without other strong (b-level) evidence supporting pathogenicity
Center for Human Genetics, Inc RCV000659542 SCV000781369 likely pathogenic Marfan syndrome 2016-11-01 criteria provided, single submitter clinical testing
GeneDx RCV000181506 SCV000233809 pathogenic not provided 2013-06-14 criteria provided, single submitter clinical testing c.4337-2 A>G: IVS35-2 A>G in intron 35 of the FBN1 gene (NM_000138.4)Although the c.4337-2 A>G mutation has not been reported as a disease-causing mutation or as a benign polymorphism to our knowledge, this mutation destroys the canonical splice acceptor site in intron 35 and is predicted to cause abnormal gene splicing. The mutation is predicted to lead to either an abnormal message that is subject to nonsense-mediated mRNA decay, or to an abnormal protein product if the message is used for protein translation. Other splice site mutations in the FBN1 gene have been reported in association with Marfan syndrome.In summary, c.4337-2 A>G in the FBN1 gene is interpreted as a disease-causing mutation. The variant is found in TAAD panel(s).

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