ClinVar Miner

Submissions for variant NM_001909.5(CTSD):c.1170C>G (p.Ile390Met) (rs370985523)

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 RCV000720764 SCV000851646 uncertain significance Seizures 2017-04-08 criteria provided, single submitter clinical testing The p.I390M variant (also known as c.1170C>G), located in coding exon 9 of the CTSD gene, results from a C to G substitution at nucleotide position 1170. The isoleucine at codon 390 is replaced by methionine, an amino acid with highly similar properties. This nucleotide position is not well conserved in available vertebrate species. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration 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.