Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Genomics, |
RCV000663688 | SCV000898694 | pathogenic | Marfan syndrome | 2023-01-17 | criteria provided, single submitter | clinical testing | This variant has been reported in the literature in 2 individuals with Marfan syndrome (Baetens 2011 PMID: 21542060; Meester 2022 PMD: 35058154). This variant is absent from gnomAD, but is present in ClinVar (Variation ID: 549204). This variant alters a cysteine residue in a calcium-binding EGF-like domain; cysteines in cbEGF-like domains of the fibrillin-1 protein are established as critical for protein structure and function (Robinson 2006 PMID: 16571647; Faivre 2007 PMID: 17701892). Evolutionary conservation and computational prediction tools strongly support that this variant impacts the encoded protein. In summary, this variant is classified as pathogenic. |
Centre of Medical Genetics, |
RCV000663688 | SCV002025295 | pathogenic | Marfan syndrome | 2021-03-01 | criteria provided, single submitter | research | PM2, PVS2, PP4 |
Center for Medical Genetics Ghent, |
RCV000663688 | SCV000787019 | likely pathogenic | Marfan syndrome | 2017-11-07 | no assertion criteria provided | clinical testing |