Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000471692 | SCV000563800 | pathogenic | Neurofibromatosis, type 1 | 2016-11-08 | criteria provided, single submitter | clinical testing | This variant is a gross deletion of the genomic region encompassing exons 4-5 of the NF1 gene. This creates a premature translational stop signal and is expected to result in an absent or disrupted protein product. Loss-of-function variants in NF1 are known to be pathogenic. Similar deletions involving exons 4-5 of NF1 have been reported in the literature in individuals with neurofibromatosis type 1 (PMID: 26189818, ). For these reasons, this variant has been classified as Pathogenic. |