ClinVar Miner

Submissions for variant NM_022098.4(XPNPEP3):c.218C>T (p.Ala73Val)

gnomAD frequency: 0.00001  dbSNP: rs747953049
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 RCV001057979 SCV001222511 uncertain significance Nephronophthisis-like nephropathy 1 2019-01-08 criteria provided, single submitter clinical testing This sequence change replaces alanine with valine at codon 73 of the XPNPEP3 protein (p.Ala73Val). The alanine residue is moderately conserved and there is a small physicochemical difference between alanine and valine. This variant is present in population databases (rs747953049, ExAC 0.001%). This variant has not been reported in the literature in individuals with XPNPEP3-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but 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.