Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000497059 | SCV002228473 | pathogenic | Neurofibromatosis, type 1 | 2020-10-27 | 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, but this prediction has not been confirmed by published transcriptional studies. This variant has been observed in individual(s) with clinical features of neurofibromatosis type 1 (PMID: 31730495, 28961165). ClinVar contains an entry for this variant (Variation ID: 431616). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Lys1014*) 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). |
Medical Genetics, |
RCV000497059 | SCV000588755 | pathogenic | Neurofibromatosis, type 1 | 2017-02-02 | no assertion criteria provided | clinical testing |