ClinVar Miner

Submissions for variant NM_000267.3(NF1):c.1527+1G>T (rs1060500331)

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 RCV000461603 SCV000542128 likely pathogenic Neurofibromatosis, type 1 2016-06-10 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 13 of the NF1 gene. It is expected to disrupt mRNA splicing and likely results in an absent or disrupted protein product. This variant has been reported in the literature in individuals affected with neurofibromatosis type 1 (NF1) (PMID: 18546366). This variant has been shown to result in the in-frame skipping of exon 13 (PMID: 18546366). Another variant affecting the same nucleotide (c.1527+1G>A) has been reported in two NF1 patients and has been also shown to result in the skipping of exon 13, indicating that this exon codes for a region important for protein function (PMID: 18546366, 26056819). In summary, this is a rare donor splice site variant that has been reported in an affected individual and results in the skipping of exon 13. For these reasons, this variant has been classified as Likely 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.