Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001045449 | SCV001209301 | uncertain significance | Neurofibromatosis, type 1 | 2019-05-02 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (ExAC no frequency). This variant, c.8359_8364del, results in the deletion of 2 amino acid(s) of the NF1 protein (p.Cys2787_Asn2788del), but otherwise preserves the integrity of the reading frame. This variant has not been reported in the literature in individuals with NF1-related conditions. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. |