ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.2168-1G>T

dbSNP: rs1555399387
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001224813 SCV001397036 pathogenic Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2019-06-18 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 18 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). Disruption of this splice site has been observed in individuals affected with Marfan syndrome (PMID: 19390640, 12161601). 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.
Centre for Genomic and Experimental Medicine, University of Edinburgh RCV000609898 SCV000731231 likely pathogenic Familial thoracic aortic aneurysm and aortic dissection no assertion criteria provided research

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