ClinVar Miner

Submissions for variant NM_198578.4(LRRK2):c.3187C>T (p.Leu1063Phe)

dbSNP: rs878853306
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002321847 SCV002610674 uncertain significance Inborn genetic diseases 2022-03-09 criteria provided, single submitter clinical testing The p.L1063F variant (also known as c.3187C>T), located in coding exon 24 of the LRRK2 gene, results from a C to T substitution at nucleotide position 3187. The leucine at codon 1063 is replaced by phenylalanine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
GeneReviews RCV000225519 SCV000282481 uncertain significance Autosomal dominant Parkinson disease 8 2014-12-11 no assertion criteria provided literature only

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.