ClinVar Miner

Submissions for variant NM_014956.5(CEP164):c.1161_1163del (p.Glu387_Ile388delinsAsp)

gnomAD frequency: 0.00001  dbSNP: rs1347609515
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
Labcorp Genetics (formerly Invitae), Labcorp RCV001907135 SCV002126924 uncertain significance Nephronophthisis 15 2021-09-29 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with CEP164-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant 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. This variant is not present in population databases (ExAC no frequency). This variant, c.1161_1163del, is a complex sequence change that results in the deletion of 2 and insertion of 1amino amino acid(s) in the CEP164 protein (p.Glu387_Ile388delinsAsp).

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.