ClinVar Miner

Submissions for variant NM_001365276.2(TNXB):c.12180C>G (p.Cys4060Trp)

gnomAD frequency: 0.00010  dbSNP: rs56345590
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
Pediatric Services, National Institutes of Health, Clinical Center RCV000186504 SCV000222739 uncertain significance Ehlers-Danlos syndrome due to tenascin-X deficiency 2015-01-01 criteria provided, single submitter research
GeneDx RCV001731502 SCV001983207 uncertain significance not provided 2021-04-16 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Identified previously in conjunction with a fusion event involving TNXB and TNXA in individuals with a phenotype of congenital adrenal hyperplasia and hypermobile Ehlers-Danlos syndrome (Morissette et al., 2015; Demirdas et al., 2017); This variant is associated with the following publications: (PMID: 26075496, 31141158, 32572181, 31229653, 27582382)

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.