Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001061335 | SCV001226073 | pathogenic | Neurofibromatosis, type 1 | 2023-12-14 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Trp425*) in the NF1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in NF1 are known to be pathogenic (PMID: 10712197, 23913538). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individuals with neurofibromatosis type 1 (PMID: 10712197, 10862084, 15060124). ClinVar contains an entry for this variant (Variation ID: 855972). For these reasons, this variant has been classified as Pathogenic. |