ClinVar Miner

Submissions for variant NM_014639.4(SKIC3):c.2662C>T (p.Gln888Ter)

gnomAD frequency: 0.00002  dbSNP: rs1269943135
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
Genomic Medicine Lab, University of California San Francisco RCV001007869 SCV001167570 pathogenic Trichohepatoenteric syndrome 1 2018-08-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003669175 SCV004392903 pathogenic not provided 2023-04-11 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with TTC37-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.02%). This sequence change creates a premature translational stop signal (p.Gln888*) in the TTC37 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in TTC37 are known to be pathogenic (PMID: 20176027, 21120949). ClinVar contains an entry for this variant (Variation ID: 816870). For these reasons, this variant has been classified as 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.