ClinVar Miner

Submissions for variant NM_001909.5(CTSD):c.561C>T (p.Gly187=)

dbSNP: rs796052405
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
GeneDx RCV000187313 SCV000240895 uncertain significance not provided 2014-08-28 criteria provided, single submitter clinical testing p.Gly187Gly (GGC>GGT): c.561 C>T in exon 5 of the CTSD gene (NM_001909.4). A variant of unknown significance has been identified in the CTSD gene. The c.561 C>T variant has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. It was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Multiple in silico models predict that the c.561 C>T substitution could potentially create a new cryptic splice donor site that may supplant the natural site in exon 5 and lead to abnormal splicing. However, in the absence of RNA/functional studies, the actual effect of the c.561 C>T sequence change is unknown. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic mutation or a rare benign variant. The variant is found in CHILD-EPI,EPILEPSY panel(s).

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.