Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000459072 | SCV000553165 | likely pathogenic | Congenital contractural arachnodactyly | 2016-07-27 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (ExAC no frequency). In summary, this variant is a donor splice site variant that has been reported in an affected individual and most likely will result in a truncated or absent protein. However, without additional functional and/or genetic data, this variant has been classified as Likely Pathogenic. This variant has been reported in the literature in an individual affected with congenital contracture arachnodactyly (PMID: 25046119). This sequence change affects a donor splice site in intron 32 of the FBN2 gene. It is expected to disrupt mRNA splicing and likely results in an absent or disrupted protein product. |