Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Medical Genomics Laboratory, |
RCV001007723 | SCV001167396 | pathogenic | Neurofibromatosis, type 1 | 2020-01-20 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001007723 | SCV002302978 | uncertain significance | Neurofibromatosis, type 1 | 2023-08-27 | criteria provided, single submitter | clinical testing | This sequence change falls in intron 44 of the NF1 gene. It does not directly change the encoded amino acid sequence of the NF1 protein. 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. Studies have shown that this variant is associated with altered splicing resulting in unknown protein product impact (PMID: 32126153). ClinVar contains an entry for this variant (Variation ID: 816737). This variant has been observed in individual(s) with clinical features of neurofibromatosis type 1 (PMID: 32126153). This variant is not present in population databases (gnomAD no frequency). |