Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001042085 | SCV001205747 | pathogenic | Neurofibromatosis, type 1 | 2019-02-02 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (ExAC no frequency). For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in NF1 are known to be pathogenic (PMID: 10712197, 23913538). This variant has not been reported in the literature in individuals with NF1-related conditions. This sequence change creates a premature translational stop signal (p.Asn734Thrfs*14) in the NF1 gene. It is expected to result in an absent or disrupted protein product. |