Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001223498 | SCV001395650 | pathogenic | Neurofibromatosis, type 1 | 2023-09-20 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Asp618Glufs*12) 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). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with clinical features of neurofibromatosis type 1 (PMID: 23913538, 27838393). This variant is also known as c.1851_1854del4 (p.Asp618fs). ClinVar contains an entry for this variant (Variation ID: 951548). For these reasons, this variant has been classified as Pathogenic. |