ClinVar Miner

Submissions for variant NM_001370466.1(NOD2):c.1567C>G (p.Leu523Val)

dbSNP: rs104895471
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
Invitae RCV002514473 SCV000958397 uncertain significance Blau syndrome; Regional enteritis 2018-09-24 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. Experimental studies have shown that this missense change disrupts NOD2 protein function (PMID: 26500656). This variant has been observed in an individual affected with Crohn's disease (PMID: 15024686). ClinVar contains an entry for this variant (Variation ID: 97836). This variant is not present in population databases (ExAC no frequency). This sequence change replaces leucine with valine at codon 550 of the NOD2 protein (p.Leu550Val). The leucine residue is highly conserved and there is a small physicochemical difference between leucine and valine.
Unité médicale des maladies autoinflammatoires, CHRU Montpellier RCV000084093 SCV000116223 not provided Blau syndrome no assertion provided not provided

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.