Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001031419 | SCV001194725 | pathogenic | Neurofibromatosis, type 1 | 2019-07-29 | criteria provided, single submitter | clinical testing | This variant is an out-of-frame deletion of the genomic region encompassing exons 6-8 of the NF1 gene. This creates a premature translational stop signal and is expected to result in an absent or disrupted protein product. Deletion of exons 6-8 has been reported in the literature in an individual affected with neurofibromatosis type 1 (PMID: 26189818). Loss-of-function variants in NF1 are known to be pathogenic (PMID: 10712197, 23913538). For these reasons, this variant has been classified as Pathogenic. |