ClinVar Miner

Submissions for variant NM_000268.4(NF2):c.1737+1420C>T

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
St. Jude Clinical Genomics Lab, St. Jude Children's Research Hospital RCV001526821 SCV001737475 uncertain significance Neurofibromatosis, type 2 2021-05-27 criteria provided, single submitter clinical testing The NF2 c.1739C>T (p.Pro580Leu) missense change is absent in gnomAD v2.1.1 ( In silico tools are not in agreement about the effect of this variant on protein function, but to our knowledge these predictions have not been confirmed by functional assays. This variant is located adjacent to the acceptor splice site of intron 15, however RNA studies suggest that the variant does not affect splicing (internal data). To our knowledge, this variant has not been reported in individuals with Neurofibromatosis type 2. In summary, this variant meets criteria to be classified as of uncertain significance based on the ACMG/AMP criteria: no criteria met.

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.