Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000708341 | SCV000837451 | pathogenic | Neurofibromatosis, type 1 | 2021-09-09 | criteria provided, single submitter | clinical testing | This variant is a gross deletion of the genomic region encompassing exon(s) 36-56 of the NF1 gene. While this deletion is not anticipated to lead to nonsense mediated decay, it is expected to disrupt the C-terminus of the protein. A similar copy number variant has been observed in individual(s) with neurofibromatosis type 1 and determined to be pathogenic (PMID: 23656349; Invitae). The region of the NF1 gene that includes exon(s) 40-45 has been determined to be clinically significant (Invitae). Therefore, deletions that encompass that region are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic. |