ClinVar Miner

Submissions for variant NM_015215.4(CAMTA1):c.4363C>T (p.Gln1455Ter)

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
PreventionGenetics, part of Exact Sciences RCV004724442 SCV005340608 likely pathogenic CAMTA1-related disorder 2024-06-26 no assertion criteria provided clinical testing The CAMTA1 c.4363C>T variant is predicted to result in premature protein termination (p.Gln1455*). To our knowledge, this variant has not been reported in the literature or in a large population database, indicating this variant is rare. Nonsense variants in CAMTA1 are expected to be pathogenic. This variant is interpreted 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.