ClinVar Miner

Submissions for variant NM_000267.3(NF1):c.6858+1G>A (rs1060500355)

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
Invitae RCV000476980 SCV000542170 likely pathogenic Neurofibromatosis, type 1 2016-11-25 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 45 of the NF1 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant has been reported in individuals with neurofibromatosis type 1 (PMID: 11735023) and in the Leiden Open-source Variation Database (PMID: 21520333). In summary, donor and acceptor splice site variants are typically loss-of-function (PMID: 16199547), and loss-of-function variants in NF1 are known to be pathogenic (PMID: 10712197, 23913538). However, without additional functional and/or genetic data, this variant has been classified as Likely Pathogenic.
Medical Genetics,University of Parma RCV000476980 SCV000588827 likely pathogenic Neurofibromatosis, type 1 2017-02-02 no assertion criteria provided clinical testing
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital RCV000476980 SCV000692364 pathogenic Neurofibromatosis, type 1 2016-12-13 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.