Total submissions: 1
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001032896 | SCV001196203 | pathogenic | Neurofibromatosis, type 1 | 2019-06-17 | criteria provided, single submitter | clinical testing | This variant is a gross deletion of the genomic region encompassing exons 14-57 of the NF1 gene. The 5' boundary is likely confined to intron 13. The 3' end of this event is unknown as it extends through the termination codon beyond the assayed region for this gene and may encompass additional genes. While this deletion is not anticipated to result in nonsense mediated decay, it is expected to create a truncated protein product or disrupt mRNA translation. A similar deletion of exons 14-57 has been observed in an individual affected with neurofibromatosis type 1 (PMID: 25631097). This variant is also known as deletion of exons 14-58 in the literature. Sub-genic deletion of exons 36-57 has been determined to be pathogenic (PMID: 10607834, 10980545, 24357598, 12807981, 26178382, Invitae). Therefore, deletions that fully encompass that region are also expected to be pathogenic. For these reasons, this variant has been classified as Pathogenic. |