ClinVar Miner

Submissions for variant NM_198859.4(PRICKLE2):c.445G>T (p.Ala149Ser)

gnomAD frequency: 0.00013  dbSNP: rs202025796
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000517447 SCV000614773 uncertain significance not specified 2017-06-23 criteria provided, single submitter clinical testing
Invitae RCV000686464 SCV000813983 uncertain significance Progressive myoclonic epilepsy type 5 2023-12-09 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 149 of the PRICKLE2 protein (p.Ala149Ser). This variant is present in population databases (rs202025796, gnomAD 0.05%), and has an allele count higher than expected for a pathogenic variant. This variant has not been reported in the literature in individuals affected with PRICKLE2-related conditions. ClinVar contains an entry for this variant (Variation ID: 448122). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt PRICKLE2 protein function with a negative predictive value of 80%. 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.
Illumina Laboratory Services, Illumina RCV001149704 SCV001310684 uncertain significance Progressive myoclonic epilepsy 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV003114644 SCV003799153 uncertain significance not provided 2022-11-07 criteria provided, single submitter clinical testing Gene 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.