ClinVar Miner

Submissions for variant NM_002160.4(TNC):c.323G>A (p.Arg108His)

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
Laboratory of Prof. Karen Avraham, Tel Aviv University RCV004585139 SCV005073814 likely pathogenic Autosomal dominant nonsyndromic hearing loss 56 2024-06-10 criteria provided, single submitter research Likely pathogenic by Deafness Variation Datatbase based on PMID: 25768348
PreventionGenetics, part of Exact Sciences RCV004731662 SCV005338865 uncertain significance TNC-related disorder 2024-09-04 no assertion criteria provided clinical testing The TNC c.323G>A variant is predicted to result in the amino acid substitution p.Arg108His. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.087% of alleles in individuals of Ashkenazi Jewish descent in gnomAD. 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.