Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000808010 | SCV000948094 | pathogenic | Neurofibromatosis, type 1 | 2023-12-08 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg720Profs*6) 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 variant has not been reported in the literature in individuals affected with NF1-related conditions. ClinVar contains an entry for this variant (Variation ID: 652458). For these reasons, this variant has been classified as Pathogenic. |