ClinVar Miner

Submissions for variant NM_006261.4(PROP1):c.112_124del (p.Ser38fs) (rs587776682)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000008569 SCV000486770 pathogenic Pituitary hormone deficiency, combined 2 2016-08-03 criteria provided, single submitter clinical testing
Invitae RCV001385680 SCV001585626 pathogenic not provided 2020-02-24 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the PROP1 gene (p.Ser38Profs*123). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 189 amino acids of the PROP1 protein. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has been observed in individual(s) with pituitary hormone deficiency (PMID: 11134108, 15963055). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 8101). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000008569 SCV000028777 pathogenic Pituitary hormone deficiency, combined 2 2000-12-01 no assertion criteria provided literature only
Endocrinology Clinic, Seth G.S. Medical College RCV000008569 SCV000191977 likely pathogenic Pituitary hormone deficiency, combined 2 2013-10-31 no assertion criteria provided case-control

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.