Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001964615 | SCV002203895 | pathogenic | Neurofibromatosis, type 1 | 2022-10-18 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1427443). This premature translational stop signal has been observed in individual(s) with clinical features of neurofibromatosis type 1 (PMID: 17960768, 18546366). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Asp378Alafs*8) 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). |
Division of Human Genetics, |
RCV001964615 | SCV004123081 | pathogenic | Neurofibromatosis, type 1 | 2023-07-01 | criteria provided, single submitter | research |