ClinVar Miner

Submissions for variant NM_004817.4(TJP2):c.3322A>G (p.Ile1108Val)

gnomAD frequency: 0.00005  dbSNP: rs201835299
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
Eurofins Ntd Llc (ga) RCV000729672 SCV000857350 uncertain significance not provided 2017-10-05 criteria provided, single submitter clinical testing
GeneDx RCV000729672 SCV001999770 uncertain significance not provided 2022-04-19 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Invitae RCV000729672 SCV002162112 uncertain significance not provided 2022-09-07 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 missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 594399). This variant has not been reported in the literature in individuals affected with TJP2-related conditions. This variant is present in population databases (rs201835299, gnomAD 0.02%). This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 1108 of the TJP2 protein (p.Ile1108Val).

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.