Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
The Laboratory of Genetics and Metabolism, |
RCV001009587 | SCV001169688 | pathogenic | Neurofibromatosis, type 1; Tibial pseudarthrosis | 2018-11-10 | criteria provided, single submitter | research | |
Gene |
RCV003324807 | SCV004030537 | pathogenic | not provided | 2023-02-28 | criteria provided, single submitter | clinical testing | Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 35053433, 35641267, Bracco2014[abstract], 31533797) |
Invitae | RCV003769419 | SCV004631019 | pathogenic | Neurofibromatosis, type 1 | 2023-08-17 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gln97*) 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 NF1-related conditions (PMID: 31533797). ClinVar contains an entry for this variant (Variation ID: 818189). For these reasons, this variant has been classified as Pathogenic. |