ClinVar Miner

Submissions for variant NM_004064.4(CDKN1B):c.283C>T (p.Pro95Ser) (rs188579132)

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
Invitae RCV000457793 SCV000541761 uncertain significance Multiple endocrine neoplasia, type 4 2019-12-22 criteria provided, single submitter clinical testing This sequence change replaces proline with serine at codon 95 of the CDKN1B protein (p.Pro95Ser). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and serine. This variant is present in population databases (rs188579132, ExAC 0.01%), and has an allele count higher than expected for a pathogenic variant (PMID: 28166811). This variant has been reported in an individual affected with multiple neoplasia type 1 and Zollinger-Ellison syndrome (PMID: 19141585). ClinVar contains an entry for this variant (Variation ID: 404265). This variant has been reported to affect CDKN1B protein function (PMID: 19141585). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV001016745 SCV001177737 uncertain significance Hereditary cancer-predisposing syndrome 2018-06-08 criteria provided, single submitter clinical testing Insufficient evidence

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.