Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Genomics, |
RCV001027823 | SCV001190443 | uncertain significance | Congenital contractural arachnodactyly; Macular degeneration, early-onset | 2019-09-17 | criteria provided, single submitter | clinical testing | FBN2 NM_001999.3 exon 13 p.Cys600Phe (c.1799_1800delinsTT): This variant has not been reported in the literature and is not present in large control databases. Evolutionary conservation and computational predictive tools suggest that this variant may impact the protein. Of note, this variant affects a cysteine residue in the epidermal growth factor (EGF) domain of the FBN2 protein, which is highly conserved. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain. |