Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001209023 | SCV001380442 | pathogenic | Neurofibromatosis, type 1 | 2023-08-10 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Asp946*) 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 premature translational stop signal has been observed in individual(s) with clinical features of neurofibromatosis type 1 (PMID: 16835897). This variant is also known as c.2835_2836insT (p.Phe944fs, PTC946). ClinVar contains an entry for this variant (Variation ID: 939599). For these reasons, this variant has been classified as Pathogenic. |
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV001729814 | SCV001979695 | pathogenic | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV001729814 | SCV001980594 | pathogenic | not provided | no assertion criteria provided | clinical testing |