Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001033342 | SCV001196649 | pathogenic | Neurofibromatosis, type 1 | 2021-08-04 | criteria provided, single submitter | clinical testing | This variant is a gross deletion of the genomic region encompassing exon(s) 4 of the NF1 gene. This deletion is out-of-frame, and is expected to create a premature translational stop signal and result in an absent or disrupted protein product. Loss-of-function variants in NF1 are known to be pathogenic (PMID: 10712197, 23913538). A similar copy number variant has been observed in individual(s) with clinical features of neurofibromatosis type 1 (PMID: 18055911, 26189818). For these reasons, this variant has been classified as Pathogenic. |