ClinVar Miner

Submissions for variant NM_014956.5(CEP164):c.796_798AAG[1] (p.Lys267del)

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
Invitae RCV001039964 SCV001203516 uncertain significance Nephronophthisis 15 2019-12-29 criteria provided, single submitter clinical testing This variant, c.799_801delAAG, results in the deletion of 1 amino acid of the CEP164 protein (p.Lys267del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs764638875, ExAC 0.08%), including at least one homozygous individual. This variant has not been reported in the literature in individuals with CEP164-related disease. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the deleted amino acid is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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.