Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001050796 | SCV001214920 | pathogenic | Neurofibromatosis, type 1 | 2019-12-13 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in NF1 are known to be pathogenic (PMID: 10712197, 23913538). This variant has not been reported in the literature in individuals with NF1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.His1348Metfs*37) in the NF1 gene. It is expected to result in an absent or disrupted protein product. |
| 3billion | RCV001050796 | SCV004013864 | pathogenic | Neurofibromatosis, type 1 | criteria provided, single submitter | clinical testing | The variant is not observed in the gnomAD v2.1.1 dataset. This frameshift variant is predicted to result in a loss or disruption of normal protein function through nonsense-mediated decay (NMD) or protein truncation. Multiple pathogenic variants are reported downstream of the variant. The variant has been reported to be associated with NF1-related disorder (ClinVar ID: VCV000847279). Therefore, this variant is classified as pathogenic according to the recommendation of ACMG/AMP guideline. |