Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001228852 | SCV001401274 | pathogenic | Neurofibromatosis, type 1 | 2021-05-18 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This variant has been observed in individual(s) with neurofibromatosis type 1 (PMID: 23913538). ClinVar contains an entry for this variant (Variation ID: 956108). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Leu1607*) 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). |