Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001381676 | SCV001580169 | pathogenic | Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection | 2020-09-02 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in FBN1 are known to be pathogenic (PMID: 17657824, 19293843). This variant has been observed in individual(s) with Marfan syndrome (PMID: 21542060). ClinVar contains an entry for this variant (Variation ID: 549132). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Ile1048Metfs*40) in the FBN1 gene. It is expected to result in an absent or disrupted protein product. |
Centre of Medical Genetics, |
RCV000663604 | SCV002025565 | pathogenic | Marfan syndrome | 2021-03-01 | criteria provided, single submitter | research | PM2, PVS1, PP1, PP4 |
Center for Medical Genetics Ghent, |
RCV000663604 | SCV000786924 | likely pathogenic | Marfan syndrome | 2017-11-07 | no assertion criteria provided | clinical testing |