Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001213478 | SCV001385110 | pathogenic | Neurofibromatosis, type 1 | 2021-06-17 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in NF1 are known to be pathogenic (PMID: 10712197, 23913538). 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. This variant has been observed in several individuals affected with neurofibromatosis type 1 (PMID: 10712197, 21354044). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Tyr49*) in the NF1 gene. It is expected to result in an absent or disrupted protein product. |