Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Medical Genomics Laboratory, |
RCV001007709 | SCV001167381 | pathogenic | Neurofibromatosis, type 1 | 2020-01-20 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001007709 | SCV002316601 | uncertain significance | Neurofibromatosis, type 1 | 2021-11-23 | criteria provided, single submitter | clinical testing | This sequence change falls in intron 5 of the NF1 gene. It does not directly change the encoded amino acid sequence of the NF1 protein. This variant is not present in population databases (gnomAD no frequency). This variant has been observed in individual(s) with clinical features of neurofibromatosis type 1 (PMID: 23913538, 32126153). ClinVar contains an entry for this variant (Variation ID: 816723). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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. |