ClinVar Miner

Submissions for variant NM_000267.3(NF1):c.7778A>G (p.Lys2593Arg) (rs587781502)

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
Ambry Genetics RCV000129477 SCV000184247 uncertain significance Hereditary cancer-predisposing syndrome 2015-10-30 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence,Rarity in general population databases (dbsnp, esp, 1000 genomes),In silico models in agreement (benign)
Invitae RCV000681041 SCV000218807 likely benign not provided 2019-02-05 criteria provided, single submitter clinical testing
GeneDx RCV000681041 SCV000808494 uncertain significance not provided 2018-03-29 criteria provided, single submitter clinical testing This variant is denoted NF1 c.7778A>G at the cDNA level, p.Lys2593Arg (K2593R) at the protein level, and results in the change of a Lysine to an Arginine (AAG>AGG). This variant has not, to our knowledge, been published in the literature as pathogenic or benign. NF1 Lys2593Arg was not observed at a significant allele frequency in large population cohorts (Lek 2016). This variant is located in the C-terminal domain (Luo 2014). In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function. Based on currently available evidence, it is unclear whether NF1 Lys2593Arg 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.