ClinVar Miner

Submissions for variant NM_004817.4(TJP2):c.3160A>G (p.Thr1054Ala)

gnomAD frequency: 0.00031  dbSNP: rs57728054
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) RCV000728757 SCV000856370 uncertain significance not provided 2018-05-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000728757 SCV003024011 benign not provided 2022-05-05 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004751682 SCV005351040 uncertain significance TJP2-related disorder 2024-06-10 no assertion criteria provided clinical testing The TJP2 c.3160A>G variant is predicted to result in the amino acid substitution p.Thr1054Ala. This variant has been reported in one patient with benign recurrent intrahepatic cholestasis together with a second missense variant of uncertain significance in this gene (Supplementary Table S1 in Zheng et al. 2023. PubMed ID: 37314652). This variant is reported in 0.45% of alleles in individuals of East Asian descent in gnomAD including one homozygous individual. Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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.