ClinVar Miner

Submissions for variant NC_000006.11:g.(?_111887655)_(111890372_?)del

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 RCV004578681 SCV005067419 likely pathogenic Candidiasis, familial, 8 2024-01-22 criteria provided, single submitter clinical testing This variant results in the deletion of exons 6 and part of exon 7 (c.1291-1477_1468del) of the TRAF3IP2 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in TRAF3IP2 are known to be pathogenic (PMID: 24120361). This variant has not been reported in the literature in individuals affected with TRAF3IP2-related conditions. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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.