ClinVar Miner

Submissions for variant NM_080425.3(GNAS):c.475G>A (p.Glu159Lys) (rs1135401777)

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,Friedrich-Alexander-Universität Erlangen-Nürnberg RCV000496133 SCV000586723 likely pathogenic Pseudohypoparathyroidism; Pseudopseudohypoparathyroidism 2017-08-01 criteria provided, single submitter clinical testing De novo missense variant identified in a female patient with mild ID, obesity, normal growth, several fractures, hypertonia lower limbs, movement anomalies.

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.