ClinVar Miner

Submissions for variant NM_004817.4(TJP2):c.1213_1215del (p.Ile405del)

dbSNP: rs727504461
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000155585 SCV000205293 uncertain significance not specified 2013-04-08 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The Ile382del varia nt in TJP2 has not been reported in affected individuals, but has been identifie d in 0.07% (6/8254) of European American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS/; dbSNP rs2 01033926). Although this variant has been seen in the general population, its f requency is not high enough to rule out a pathogenic role. This variant causes a n in-frame deletion of a single amino acid isoleucine (Ile)] at position 382 tha t is not highly conserved in mammals and across evolutionarily distant species. In summary, the clinical significance of this variant cannot be determined with certainty; however, based upon its presence in the general population and the la ck of conservation at the amino acid position, we lean towards a more likely ben ign role.
Eurofins Ntd Llc (ga) RCV000724040 SCV000232666 uncertain significance not provided 2014-08-05 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000391968 SCV000480552 uncertain significance Nonsyndromic Hearing Loss, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002484939 SCV002780198 uncertain significance Hypercholanemia, familial 1; Cholestasis, progressive familial intrahepatic, 4 2021-07-15 criteria provided, single submitter clinical testing
Invitae RCV000724040 SCV004549793 benign not provided 2023-11-29 criteria provided, single submitter clinical testing

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.