Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000547001 | SCV000630211 | uncertain significance | Congenital contractural arachnodactyly | 2017-03-27 | criteria provided, single submitter | clinical testing | This sequence change inserts 1 nucleotide in exon 24 of the FBN2 mRNA (c.3196dupA), causing a frameshift at codon 1066. This creates a premature translational stop signal (p.Thr1066Asnfs*11) and is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a FBN2-related disease. The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in FBN2 cause disease. Therefore, this variant has been classified as a Variant of Uncertain Significance. |