ClinVar Miner

Submissions for variant NM_000267.3(NF1):c.7804C>G (p.Leu2602Val) (rs1555536721)

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
Ambry Genetics RCV000575517 SCV000663205 uncertain significance Hereditary cancer-predisposing syndrome 2016-11-03 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (deleterious) and/or completely conserved position in appropriate species,Insufficient evidence
GeneDx RCV000681297 SCV000808759 uncertain significance not provided 2018-05-17 criteria provided, single submitter clinical testing This variant is denoted NF1 c.7804C>G at the cDNA level, p.Leu2602Val (L2602V) at the protein level, and results in the change of a Leucine to a Valine (CTA>GTA). This variant has not, to our knowledge, been published in the literature as a pathogenic or benign germline variant. NF1 Leu2602Val was not observed in large population cohorts (Lek 2016). This variant is located in C-terminal domain (Luo 2014). While protein-based in silico analysis supports that this variant does not alter protein structure/function, splicing models predict the loss of the nearby natural splice donor site. However, in the absence of RNA or functional studies, the actual effect of this variant is unknown. Based on currently available evidence, it is unclear whether NF1 Leu2602Val is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.

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.