Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Human Genetics, |
RCV000660042 | SCV000781994 | pathogenic | Neurofibromatosis, type 1 | 2016-11-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000660042 | SCV000963753 | pathogenic | Neurofibromatosis, type 1 | 2018-09-27 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Asn1229Metfs*11) in the NF1 gene. It is expected to result in an absent or disrupted protein product. For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in NF1 are known to be pathogenic (PMID: 10712197, 23913538). This variant has been observed in an individual affected with neurofibromatosis type 1 (PMID: 14517963). ClinVar contains an entry for this variant (Variation ID: 547633). This variant is not present in population databases (ExAC no frequency). |
Genome- |
RCV000660042 | SCV002559979 | pathogenic | Neurofibromatosis, type 1 | 2022-03-15 | criteria provided, single submitter | clinical testing |