Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002770082 | SCV003024230 | pathogenic | Neurofibromatosis, type 1 | 2023-07-27 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Ser2528*) 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). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1983108). This variant has not been reported in the literature in individuals affected with NF1-related conditions. This variant is not present in population databases (gnomAD no frequency). |
Baylor Genetics | RCV003464597 | SCV004190791 | likely pathogenic | Juvenile myelomonocytic leukemia | 2022-08-11 | criteria provided, single submitter | clinical testing |