Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001868186 | SCV002239009 | pathogenic | Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection | 2022-02-28 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. 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. ClinVar contains an entry for this variant (Variation ID: 549222). Disruption of this splice site has been observed in individuals with Marfan syndrome (PMID: 17657824, 21907952, 27906200). This variant is not present in population databases (gnomAD no frequency). 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. |
| Blueprint Genetics | RCV000663717 | SCV000206963 | likely pathogenic | Marfan syndrome | 2014-07-18 | no assertion criteria provided | clinical testing | |
| Center for Medical Genetics Ghent, |
RCV000663717 | SCV000787053 | pathogenic | Marfan syndrome | 2017-11-07 | no assertion criteria provided | clinical testing |