Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000228812 | SCV000284515 | pathogenic | Neurofibromatosis, type 1 | 2023-12-23 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gln2507Asnfs*20) 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 neurofibromatosis, type 1 (PMID: 31370276). ClinVar contains an entry for this variant (Variation ID: 237598). For these reasons, this variant has been classified as Pathogenic. |
Center for Human Genetics, |
RCV000228812 | SCV000782106 | likely pathogenic | Neurofibromatosis, type 1 | 2016-11-01 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000228812 | SCV002560580 | pathogenic | Neurofibromatosis, type 1 | 2022-03-15 | criteria provided, single submitter | clinical testing |