ClinVar Miner

Submissions for variant NM_001166108.2(PALLD):c.1965-12844C>T

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
Ambry Genetics RCV005386310 SCV006047544 uncertain significance not specified 2025-02-09 criteria provided, single submitter clinical testing The p.R63C variant (also known as c.187C>T), located in coding exon 1 of the PALLD gene, results from a C to T substitution at nucleotide position 187. The arginine at codon 63 is replaced by cysteine, an amino acid with highly dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.

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.