ClinVar Miner

Submissions for variant NM_014112.5(TRPS1):c.1919_2096+2929del

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
Labcorp Genetics (formerly Invitae), Labcorp RCV001228919 SCV001401347 likely pathogenic Trichorhinophalangeal syndrome, type III; Trichorhinophalangeal dysplasia type I 2019-09-03 criteria provided, single submitter clinical testing This variant results in the deletion of part of exon 4 (c.1919_2096+2929del) of the TRPS1 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with TRPS1-related conditions. Loss-of-function variants in TRPS1 are known to be pathogenic (PMID: 11112658). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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.