ClinVar Miner

Submissions for variant NM_000557.5(GDF5):c.628C>T (p.Gln210Ter)

gnomAD frequency: 0.00001  dbSNP: rs146968459
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 RCV001175126 SCV001335549 likely pathogenic not provided 2019-12-02 criteria provided, single submitter clinical testing Observed as a heterozygous variant in internal GeneDx whole exome sequencing data in association with bilateral brachydactyly. Nonsense variant in the C-terminus predicted to result in protein truncation, as the last 292 amino acids are lost, and other loss-of-function variants have been reported downstream in the Human Gene Mutation Database (Stenson et al., 2014). Not observed at a significant frequency in large population cohorts (Lek et al., 2016). We interpret Q210X as a likely pathogenic variant

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.