Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Genomics, |
RCV000576844 | SCV000678220 | likely pathogenic | Congenital contractural arachnodactyly | 2017-08-01 | criteria provided, single submitter | clinical testing | FBN2 NM_001999.3 exon27 p.Gly1172Cys (c.3514G>T): This variant has not been reported in the literature, but has been identified de novo by our laboratory in 1 individual with clinical features of Marfan related disorders. This variant is not present in large control databases. Evolutionary conservation and computational predictive tools suggest that this variant may impact the protein. In summary, data on this variant is highly suspicious for disease, but requires further evidence for pathogenicity. Therefore, this variant classified as likely pathogenic. |