Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Human Genetics, |
RCV000659970 | SCV000781884 | pathogenic | Neurofibromatosis, type 1 | 2016-11-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000659970 | SCV001233444 | pathogenic | Neurofibromatosis, type 1 | 2021-08-28 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 547574). This premature translational stop signal has been observed in individual(s) with neurofibromatosis, type 1 (PMID: 10874316). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gln315*) 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). |
Gene |
RCV001584518 | SCV001812608 | pathogenic | not provided | 2021-06-16 | 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 a significant frequency in large population cohorts (Lek 2016); Published functional studies demonstrate a damaging effect: aberrant splicing with skipping of exon 9 (also published as exon 7) (Zatkova 2004, Hernandez-Imaz 2015); This variant is associated with the following publications: (PMID: 10874316, 27535533, 17981615, 19339519, 15523642, 26509978, 25525159) |
Genome- |
RCV000659970 | SCV002561613 | pathogenic | Neurofibromatosis, type 1 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Department of Pediatrics, |
RCV004556064 | SCV005045320 | pathogenic | Neurofibromatosis-Noonan syndrome | 2024-02-01 | no assertion criteria provided | clinical testing |