ClinVar Miner

Submissions for variant NM_133259.4(LRPPRC):c.469+1G>A (rs1060499785)

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
Knight Diagnostic Laboratories,Oregon Health and Sciences University RCV000454266 SCV000538048 likely pathogenic Leigh syndrome, French Canadian type 2016-03-30 criteria provided, single submitter clinical testing The c.469+1G>A splice-donor variant in the LRPPRC gene has been not been previously reported in published literature and is absent from the population databases (ESP; 1000 Genomes; ExAC). This variant is located within the canonical splice site of intron 3, and in silico algorithms predict this variant will cause abnormal splicing (Human Splice Finder = Broken WT Donor Site). Multiple splice variants located downstream of this c.469+1G>A variant have been reported as pathogenic by reputable diagnostic laboratories (c.864+2 T>C, c.1920+1 G>T). Therefore, this collective evidence supports the classification of the c.469+1G>A as a recessive *Likely pathogenic (see recommendation) variant 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.