ClinVar

Description

This variant results in a copy number gain of the genomic region encompassing the full coding sequence of the NF1 gene. The boundaries of this event are unknown as they extend 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. While a whole gene duplication of NF1 alone has not been reported in the literature in individuals with NF1-related disease, microduplications spanning NF1 and the surrounding genomic region have been reported in individuals with variable developmental delay, intellectual disability, and a distinct absence of neurofibromas (PMID: 25205021, 22241097, 18183042, 27629806). These large multigenic duplications in NF1 appear to segregate with disease in several families although a few unaffected carriers have also been observed (PMID: 18183042, 22241097, 25205021). 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.