ClinVar Miner

Submissions for variant NM_001146079.2(CLDN14):c.116_118del (p.Asn39del)

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
Clinical Genomics Laboratory, Washington University in St. Louis RCV003458966 SCV004176960 uncertain significance Vein of Galen aneurysmal malformation 2023-08-27 criteria provided, single submitter clinical testing The CLDN14:c.116_118del (p.Asn39del) variant, to our knowledge, has not been reported in the medical literature. This variant is only observed on 2/152112 in the general population (gnomAD v.3.1.2), indicating it is not a common variant. This variant is predicted to cause a change in the length of the protein due to an in-frame deletion of three nucleotides (1 amino acid) in a non-repeat region. Due to limited information, and based on ACMG/AMP guidelines for variant interpretation (Richards S et al., PMID: 25741868), this variant is classified as being uncertain significance at this time.

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.