ClinVar Miner

Submissions for variant NM_004817.4(TJP2):c.3536A>C (p.Tyr1179Ser)

gnomAD frequency: 0.00001  dbSNP: rs765987734
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
Eurofins Ntd Llc (ga) RCV000731994 SCV000859868 uncertain significance not provided 2018-02-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV002535251 SCV003730188 uncertain significance Inborn genetic diseases 2021-06-18 criteria provided, single submitter clinical testing The c.3536A>C (p.Y1179S) alteration is located in exon 23 (coding exon 23) of the TJP2 gene. This alteration results from a A to C substitution at nucleotide position 3536, causing the tyrosine (Y) at amino acid position 1179 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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.