ClinVar Miner

Submissions for variant NM_000451.3(SHOX):c.-19G>A (rs201157428)

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
Laboratory of Human Genetics, UPO, University of Eastern Piedmont RCV001201340 SCV001372230 likely pathogenic Short stature, idiopathic, X-linked 2019-01-02 criteria provided, single submitter clinical testing c.-19G>A variant in SHOX has been reported in 3 Italian individuals with idiopathic short stature. This variant was absent in large population studies. Additionally, in vitro functional studies indicated that this variant create an alternative branch site within exon 2 causing an aberrant mRNA splicing.

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.