Total submissions: 1
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000796789 | SCV000936317 | uncertain significance | Neurofibromatosis, type 1 | 2018-08-22 | criteria provided, single submitter | clinical testing | This variant results in a copy number gain of the genomic region encompassing exon 57 of the NF1 gene. The 5' boundary is likely confined to intron 56. The 3' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes. As the precise location of this event is unknown, it may be in tandem or it may be located elsewhere in the genome. A copy number gain of exon 57 has not been reported in the literature in individuals with NF1-related disease. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the duplicated exon is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |