ClinVar Miner

Submissions for variant NM_153026.3(PRICKLE1):c.400A>C (p.Asn134His) (rs200558941)

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 RCV000540316 SCV000646884 uncertain significance Progressive myoclonus epilepsy with ataxia 2017-06-14 criteria provided, single submitter clinical testing This sequence change replaces asparagine with histidine at codon 134 of the PRICKLE1 protein (p.Asn134His). The asparagine residue is highly conserved and there is a small physicochemical difference between asparagine and histidine. This variant is present in population databases (rs200558941, ExAC 0.01%). This variant has not been reported in the literature in individuals with a PRICKLE1-related disease. 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 disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. In summary, this variant has uncertain impact on PRICKLE1 function. The available evidence is currently insufficient to determine its role 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.