Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Human Genetics, |
RCV000660053 | SCV000782013 | pathogenic | Neurofibromatosis, type 1 | 2016-11-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000660053 | SCV000833076 | pathogenic | Neurofibromatosis, type 1 | 2022-10-05 | criteria provided, single submitter | clinical testing | This premature translational stop signal has been observed in individual(s) with neurofibromatosis–Noonan syndrome and neurofibromatosis type 1 (PMID: 10712197, 16835897, 19845691). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 547643). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Glu1415*) 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). |
Gene |
RCV001592842 | SCV001826133 | pathogenic | not provided | 2019-07-26 | criteria provided, single submitter | clinical testing | Not observed in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 31776437, 16835897, 16380919, 25525159, 10712197) |
Genome- |
RCV000660053 | SCV002560033 | pathogenic | Neurofibromatosis, type 1 | 2022-03-15 | criteria provided, single submitter | clinical testing |