ClinVar Miner

Submissions for variant NM_006261.4(PROP1):c.358C>T (p.Arg120Cys) (rs121917839)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000008563 SCV000220236 likely pathogenic Pituitary hormone deficiency, combined 2 2014-04-09 criteria provided, single submitter literature only
Invitae RCV001389806 SCV001591287 pathogenic not provided 2020-10-26 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 120 of the PROP1 protein (p.Arg120Cys). The arginine residue is highly conserved and there is a large physicochemical difference between arginine and cysteine. This variant is present in population databases (rs121917839, ExAC 0.02%). This variant has been observed in individual(s) with combined pituitary hormone deficiency (PMID: 9462743, 9768691, 17526949, 12153609). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 8095). This variant has been reported to affect PROP1 protein function (PMID: 9462743). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000008563 SCV000028771 pathogenic Pituitary hormone deficiency, combined 2 1998-10-01 no assertion criteria provided literature only

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.