ClinVar Miner

Submissions for variant NM_014112.5(TRPS1):c.1817C>T (p.Ser606Phe)

dbSNP: rs1817974591
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
Institute of Human Genetics, University of Goettingen RCV001260904 SCV001430599 likely pathogenic Trichorhinophalangeal dysplasia type I 2020-06-05 criteria provided, single submitter clinical testing The TRPS1 variant c.1817C>T is not found in the gnomAD database, which has most likely occurred de novo. The mutation is independently classified as disease causing mutation by two (MutationTaster, SIFT) prediction programs. Thus, we consider this variant to be likely pathogenic. ACMG criteria used for classification: PS2, PM2, PP2, BP4.

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.