ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.4337-1G>T

dbSNP: rs1555397424
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001868186 SCV002239009 pathogenic Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2022-02-28 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 35 of the FBN1 gene. RNA analysis indicates that disruption of this splice site induces altered splicing and may result in an absent or disrupted protein product. This variant is not present in population databases (gnomAD no frequency). Disruption of this splice site has been observed in individuals with Marfan syndrome (PMID: 17657824, 21907952, 27906200). ClinVar contains an entry for this variant (Variation ID: 549222). Studies have shown that disruption of this splice site results in deletion of 11 nucleotides of exon 36 and introduces a premature termination codon (PMID: 21907952). The resulting mRNA is expected to undergo nonsense-mediated decay. For these reasons, this variant has been classified as Pathogenic.
Blueprint Genetics RCV000663717 SCV000206963 likely pathogenic Marfan syndrome 2014-07-18 no assertion criteria provided clinical testing
Center for Medical Genetics Ghent, University of Ghent RCV000663717 SCV000787053 pathogenic Marfan syndrome 2017-11-07 no assertion criteria provided clinical testing

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