ClinVar Miner

Submissions for variant NM_000267.3(NF1):c.4076del (p.Pro1359fs) (rs1135402852)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Human Genetics, Inc,Center for Human Genetics, Inc RCV000497034 SCV000782007 pathogenic Neurofibromatosis, type 1 2016-11-01 criteria provided, single submitter clinical testing
Invitae RCV000497034 SCV001234332 pathogenic Neurofibromatosis, type 1 2019-11-22 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Pro1359Leufs*26) in the NF1 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individuals affected with neurofibromatosis type 1 (PMID: 9003501). This variant has also been reported as 4071-4076delC in the literature. ClinVar contains an entry for this variant (Variation ID: 431632). Loss-of-function variants in NF1 are known to be pathogenic (PMID: 10712197, 23913538). For these reasons, this variant has been classified as Pathogenic.
Medical Genetics, University of Parma RCV000497034 SCV000588772 pathogenic Neurofibromatosis, type 1 2017-02-02 no assertion criteria provided clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.