ClinVar Miner

Submissions for variant NM_000138.4(FBN1):c.5065+1G>C (rs1296209846)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Human Genetics, Inc RCV000659550 SCV000781381 pathogenic Marfan syndrome 2016-11-01 criteria provided, single submitter clinical testing
Invitae RCV000696440 SCV000825002 pathogenic Marfan syndrome; Thoracic aortic aneurysm and aortic dissection 2018-05-10 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 41 of the FBN1 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individuals affected with Marfan syndrome (PMID: 19159394, Invitae). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in FBN1 are known to be pathogenic (PMID: 17657824, 19293843). For these reasons, this variant has been classified as Pathogenic.
Center for Medical Genetics Ghent,University of Ghent RCV000659550 SCV000787109 likely pathogenic Marfan syndrome 2017-11-07 no assertion criteria provided clinical testing

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