ClinVar Miner

Submissions for variant NM_152618.3(BBS12):c.476C>T (p.Pro159Leu) (rs1450190654)

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 RCV000671341 SCV000796305 uncertain significance Bardet-Biedl syndrome 12 2017-12-11 criteria provided, single submitter clinical testing
Invitae RCV001046755 SCV001210669 uncertain significance Bardet-Biedl syndrome 2019-11-21 criteria provided, single submitter clinical testing This sequence change replaces proline with leucine at codon 159 of the BBS12 protein (p.Pro159Leu). The proline residue is moderately conserved and there is a moderate physicochemical difference between proline and leucine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in combination with another BBS12 variant in several individuals affected with Bardet-Biedl syndrome (PMID: 25982971,22410627). ClinVar contains an entry for this variant (Variation ID: 555505). This variant has been reported to have conflicting or insufficient data to determine the effect on BBS12 protein function (PMID: 20498079,20080638). 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.
Blueprint Genetics RCV001074269 SCV001239842 likely pathogenic Retinal dystrophy 2019-05-14 criteria provided, single submitter 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.