Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Human Genetics, |
RCV000660063 | SCV000782031 | pathogenic | Neurofibromatosis, type 1 | 2016-11-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001007974 | SCV001167704 | pathogenic | not provided | 2023-09-18 | 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: 25525159, 9180088, 9042399, 10360836, 10421056, 12872266, 10712197) |
Invitae | RCV000660063 | SCV001587499 | pathogenic | Neurofibromatosis, type 1 | 2021-04-05 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This variant has been observed in individual(s) with neurofibromatosis type 1 and with juvenile myelomonocytic leukemia (PMID: 10712197, 9639526). ClinVar contains an entry for this variant (Variation ID: 350). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Trp1538*) 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- |
RCV000660063 | SCV002560075 | pathogenic | Neurofibromatosis, type 1 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000000378 | SCV000020522 | pathogenic | Juvenile myelomonocytic leukemia | 1997-06-12 | no assertion criteria provided | literature only |