ClinVar Miner

Submissions for variant NM_000268.3(NF2):c.676-2A>G (rs1060503666)

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
Invitae RCV000468441 SCV000553665 pathogenic Neurofibromatosis, type 2 2016-06-25 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 7 of the NF2 gene. It is expected to disrupt mRNA splicing and likely results in an absent or disrupted protein product. Loss-of-function variants in NF2 are known to be pathogenic. This particular variant has been reported in the literature in a patient with three non-vestibular schwannomas, consistent with neurofibromatosis type 2 (NF2) (PMID: 21906157). It has also been seen in an individual with classic NF2 symptoms (Invitae database). For these reasons, this variant has been classified as Pathogenic.

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.