ClinVar Miner

Submissions for variant NM_001079668.3(NKX2-1):c.524C>A (p.Ser175Ter) (rs863225300)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000760480 SCV000890369 pathogenic not provided 2018-12-26 criteria provided, single submitter clinical testing The S175X variant in the NKX2-1 gene has been reported previously in several families with NKX2-1-related disorders; please note that Ferrara et al. and Salvatore et al. reported this variant using alternate nomenclature S145X (Ferrara et al., 2008; Salvatore et al., 2010; de Gusmao et al., 2016). This variant is predicted to cause loss of normal protein function through protein truncation, and functional studies of S175X indicate that it renders the NKX2-1 protein unable to translocate into the nucleus (Ferrara et al., 2008). The S175X variant is not observed in large population cohorts (Lek et al., 2016). We interpret S175X as a pathogenic variant.
Mendelics RCV000201946 SCV000256880 pathogenic Choreoathetosis, hypothyroidism, and neonatal respiratory distress 2014-08-01 no assertion criteria provided clinical testing

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.