ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.1468+2T>G

dbSNP: rs794728167
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001049728 SCV001213796 pathogenic Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2019-04-24 criteria provided, single submitter clinical testing 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. 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. This variant has been observed in individuals affected with clinical features of Marfan syndrome (PMID: 24161884, Invitae). This variant is not present in population databases (ExAC no frequency). This sequence change affects a donor splice site in intron 12 of the FBN1 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product.

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