ClinVar Miner

Submissions for variant NM_133259.4(LRPPRC):c.2056A>G (p.Ile686Val)

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
Illumina Clinical Services Laboratory,Illumina RCV001270836 SCV001451604 uncertain significance Leigh syndrome 2019-07-18 criteria provided, single submitter clinical testing The LRPPRC c.2056A>G (p.Ile686Val) variant is a missense variant. A literature search was performed for the gene, cDNA change, and amino acid change. No publications were found based on this search. This variant is reported at a frequency of 0.000012 in the Total population of the Genome Aggregation Database. Based on the limited evidence, the p.Ile686Val variant is classified as a variant of uncertain significance for Leigh syndrome.

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.