Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Human Genetics, |
RCV000660013 | SCV000781950 | pathogenic | Neurofibromatosis, type 1 | 2016-11-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000660013 | SCV002164843 | pathogenic | Neurofibromatosis, type 1 | 2022-07-21 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 547610). This premature translational stop signal has been observed in individual(s) with neurofibromatosis type 1 (PMID: 10712197, 31776437). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln786*) 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. |
Genome- |
RCV000660013 | SCV002561759 | pathogenic | Neurofibromatosis, type 1 | 2022-03-15 | criteria provided, single submitter | clinical testing |