Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
The Laboratory of Genetics and Metabolism, |
RCV001009579 | SCV001169680 | pathogenic | Neurofibromatosis, type 1; Tibial pseudarthrosis | 2018-11-10 | criteria provided, single submitter | research | |
Invitae | RCV001223770 | SCV001395932 | pathogenic | Neurofibromatosis, type 1 | 2023-09-05 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 818186). This premature translational stop signal has been observed in individual(s) with neurofibromatosis type I (PMID: 9452037). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln682*) 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). |
Genome Diagnostics Laboratory, |
RCV001223770 | SCV001479148 | pathogenic | Neurofibromatosis, type 1 | 2020-10-26 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001223770 | SCV002561728 | pathogenic | Neurofibromatosis, type 1 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003898031 | SCV004714724 | pathogenic | NF1-related condition | 2024-01-11 | criteria provided, single submitter | clinical testing | The NF1 c.2044C>T variant is predicted to result in premature protein termination (p.Gln682*). This variant was reported in individuals with neurofibromatosis type 1 (see for example - Zhu et al. 2019. PubMed ID: 31533797; Table S3, Kang et al. 2019. PubMed ID: 31776437). This variant has not been reported in a large population database, indicating this variant is rare. Nonsense variants in NF1 are expected to be pathogenic. This variant is interpreted as pathogenic. |