ClinVar Miner

Submissions for variant NM_001904.4(CTNNB1):c.999C>A (p.Tyr333Ter)

dbSNP: rs778624338
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000522499 SCV000619149 pathogenic not provided 2024-11-06 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 37455656, 31526516, 33057194, 35982159, 36153650)
Ambry Genetics RCV000624466 SCV000742553 pathogenic Inborn genetic diseases 2017-05-12 criteria provided, single submitter clinical testing
Mendelics RCV000987258 SCV001136508 pathogenic Hepatocellular carcinoma 2019-05-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000522499 SCV003310640 pathogenic not provided 2022-05-15 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr333*) in the CTNNB1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CTNNB1 are known to be pathogenic (PMID: 23033978, 24614104, 25326669, 26350204, 28575650). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with CTNNB1-related conditions (PMID: 30640974). ClinVar contains an entry for this variant (Variation ID: 450550). 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.