ClinVar Miner

Submissions for variant NM_147686.4(TRAF3IP2):c.934_936del (p.Lys312del)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002639220 SCV002974671 uncertain significance Candidiasis, familial, 8 2022-10-05 criteria provided, single submitter clinical testing This variant is present in population databases (rs746767211, gnomAD 0.0009%). This variant, c.934_936del, results in the deletion of 1 amino acid(s) of the TRAF3IP2 protein (p.Lys312del), but otherwise preserves the integrity of the reading frame. This variant has not been reported in the literature in individuals affected with TRAF3IP2-related conditions. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown.

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.