Submissions for variant NM_014956.5(CEP164):c.3904C>T (p.Pro1302Ser)

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	RCV001229800	SCV001402257	uncertain significance	Nephronophthisis 15	2019-10-21	criteria provided, single submitter	clinical testing	This sequence change replaces proline with serine at codon 1302 of the CEP164 protein (p.Pro1302Ser). The proline residue is weakly conserved and there is a moderate physicochemical difference between proline and serine. This variant is present in population databases (rs201430651, ExAC 0.03%). This variant has not been reported in the literature in individuals with CEP164-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The serine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.