Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Centre of Medical Genetics, |
RCV000663527 | SCV002025532 | pathogenic | Marfan syndrome | 2021-03-01 | criteria provided, single submitter | research | PM2, PVS1, PP4 |
Invitae | RCV003767929 | SCV004571021 | pathogenic | Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection | 2023-12-15 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Ile766Metfs*5) 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). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with Marfan syndrome (PMID: 21542060). ClinVar contains an entry for this variant (Variation ID: 549072). For these reasons, this variant has been classified as Pathogenic. |
Center for Medical Genetics Ghent, |
RCV000663527 | SCV000786836 | likely pathogenic | Marfan syndrome | 2017-11-07 | no assertion criteria provided | clinical testing |