Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Human Genetics, |
RCV000659999 | SCV000781926 | likely pathogenic | Neurofibromatosis, type 1 | 2016-11-01 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV000756430 | SCV000884248 | pathogenic | not provided | 2017-06-07 | criteria provided, single submitter | clinical testing | The NF1 c.1660C>T;p.Gln554Ter variant is listed as pathogenic in a gene-specific database in two individuals (see link below). Additionally, according to a personal communication with the Human Gene Mutation Database, this variant was also included in van Minkelen 2014. The variant is not listed in the ClinVar database, the dbSNP variant database, or in the general population-based databases (Exome Variant Server, Genome Aggregation Database). This variant introduces a premature termination codon and is predicted to result in a truncated or absent protein. Considering available information, this variant is classified as pathogenic. References: Link to NF1 database: https://grenada.lumc.nl/LOVD2/mendelian_genes/home.php?select_db=NF1 van Minkelen R et al. A clinical and genetic overview of 18 years neurofibromatosis type 1 molecular diagnostics in the Netherlands. Clin Genet. 2014 Apr;85(4):318-27. |
Invitae | RCV000659999 | SCV002243801 | pathogenic | Neurofibromatosis, type 1 | 2021-10-09 | 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: 547601). This variant has not been reported in the literature in individuals affected with NF1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gln554*) 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). |
Genome- |
RCV000659999 | SCV002561689 | likely pathogenic | Neurofibromatosis, type 1 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
MGZ Medical Genetics Center | RCV000659999 | SCV002580418 | pathogenic | Neurofibromatosis, type 1 | 2021-10-04 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000756430 | SCV004169797 | pathogenic | not provided | 2023-05-10 | 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); Observed in a patient in the published literature; however, this patient's phenotype was not described (Cho et al., 2017); This variant is associated with the following publications: (PMID: 23656349, 28851938) |