ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.3314+2T>G

dbSNP: rs863224445
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001052003 SCV001216188 pathogenic Neurofibromatosis, type 1 2021-07-06 criteria provided, single submitter clinical testing Disruption of this splice site has been observed in individual(s) with neurofibromatosis type 1 (PMID: 31443423). ClinVar contains an entry for this variant (Variation ID: 848281). 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 disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. This variant is not present in population databases (ExAC no frequency). This sequence change affects a donor splice site in intron 25 of the NF1 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in NF1 are known to be pathogenic (PMID: 10712197, 23913538).
Baylor Genetics RCV003467768 SCV004190696 likely pathogenic Juvenile myelomonocytic leukemia 2023-06-06 criteria provided, single submitter 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.