ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.3964+2T>C

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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 RCV003805318 SCV004593090 pathogenic Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2022-12-06 criteria provided, single submitter clinical testing 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. Disruption of this splice site has been observed in individual(s) with Marfan syndrome (PMID: 33578525). This variant is not present in population databases (gnomAD no frequency). This sequence change affects a donor splice site in intron 32 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).

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