ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.6739+1G>A

dbSNP: rs869025419
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV000208077 SCV000263917 likely pathogenic Marfan syndrome 2015-11-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001056082 SCV001220501 pathogenic Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2021-09-15 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 55 of the FBN1 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site 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). This variant is not present in population databases (ExAC no frequency). Disruption of this splice site has been observed in individuals with Marfan syndrome or thoracic aortic aneurysm and dissection (PMID: 8101042, 17657824, 25652356, 28973303). ClinVar contains an entry for this variant (Variation ID: 222618). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.

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