Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000497191 | SCV002231856 | pathogenic | Neurofibromatosis, type 1 | 2023-04-07 | 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: 431595). This premature translational stop signal has been observed in individual(s) with neurofibromatosis type 1 (PMID: 24789688). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Asp556Alafs*11) 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). |
Institute of Medical Genetics and Applied Genomics, |
RCV000497191 | SCV004102640 | pathogenic | Neurofibromatosis, type 1 | 2023-11-15 | criteria provided, single submitter | clinical testing | |
Medical Genetics, |
RCV000497191 | SCV000588731 | pathogenic | Neurofibromatosis, type 1 | 2017-02-02 | no assertion criteria provided | clinical testing |