ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.5545+1G>A

dbSNP: rs1260109901
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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 RCV001868189 SCV002286068 likely pathogenic Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2021-03-26 criteria provided, single submitter clinical testing 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 sequence change affects a donor splice site in intron 45 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). This variant has been observed in individual(s) with aortic aneurysm (Invitae). ClinVar contains an entry for this variant (Variation ID: 549288). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
Center for Medical Genetics Ghent, University of Ghent RCV000663797 SCV000787148 likely pathogenic Marfan syndrome 2017-11-07 no assertion criteria provided clinical testing

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