Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001381229 | SCV001579536 | pathogenic | Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection | 2022-08-23 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 549366). This premature translational stop signal has been observed in individual(s) with Marfan syndrome (PMID: 25907466). This sequence change creates a premature translational stop signal (p.Cys2258Tyrfs*2) in the FBN1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in FBN1 are known to be pathogenic (PMID: 17657824, 19293843). |
Centre of Medical Genetics, |
RCV000663900 | SCV002025416 | pathogenic | Marfan syndrome | 2021-03-01 | criteria provided, single submitter | research | PM2, PVS1, PP4 |
Center for Medical Genetics Ghent, |
RCV000663900 | SCV000787266 | likely pathogenic | Marfan syndrome | 2017-11-07 | no assertion criteria provided | clinical testing |