Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Division of Genomic Medicine, |
RCV001374596 | SCV001571437 | pathogenic | Neurofibromatosis, type 1 | 2021-02-03 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV001374596 | SCV004467165 | pathogenic | Neurofibromatosis, type 1 | 2023-05-20 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Met1214Aspfs*3) in the NF1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in NF1 are known to be pathogenic (PMID: 10712197, 23913538). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1064550). This variant has not been reported in the literature in individuals affected with NF1-related conditions. This variant is not present in population databases (gnomAD no frequency). |