ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.165-2A>C

dbSNP: rs754351718
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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 RCV000795843 SCV000935321 pathogenic Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2024-10-29 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 2 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 (gnomAD no frequency). Disruption of this splice site has been observed in individuals with clinical features of FBN1-related disease (PMID: 12402346; internal data). ClinVar contains an entry for this variant (Variation ID: 642384). 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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