ClinVar Miner

Submissions for variant NM_016203.4(PRKAG2):c.274C>A (p.Pro92Thr)

gnomAD frequency: 0.00001  dbSNP: rs1170556084
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000785136 SCV000923698 uncertain significance Hypertrophic cardiomyopathy 6 2019-01-01 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001186583 SCV001353046 uncertain significance Cardiomyopathy 2023-12-04 criteria provided, single submitter clinical testing Variant of Uncertain Significance due to insufficient evidence: This missense variant replaces proline with threonine at codon 92 of the PRKAG2 protein. Computational prediction tools and conservation analyses are inconclusive regarding the impact of this variant on the protein function. Computational splicing tools suggest that this variant may not impact RNA splicing. To our knowledge, functional assays have not been performed for this variant nor has this variant been reported in individuals affected with cardiovascular disorders in the literature. This variant has been identified in 2/249424 chromosomes in the general population by the Genome Aggregation Database (gnomAD). Available evidence is insufficient to determine the role of this variant in disease conclusively.
Juno Genomics, Hangzhou Juno Genomics, Inc RCV004796311 SCV005418746 uncertain significance Lethal congenital glycogen storage disease of heart; Hypertrophic cardiomyopathy 6; Wolff-Parkinson-White pattern criteria provided, single submitter clinical testing PM2_Supporting+PP4

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.