ClinVar Miner

Submissions for variant NM_152618.3(BBS12):c.1115_1116del (p.Gly371_Phe372insTer) (rs587777803)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000419202 SCV000510592 pathogenic not provided 2017-01-04 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000419202 SCV000609146 likely pathogenic not provided 2017-03-01 criteria provided, single submitter clinical testing
Invitae RCV000735936 SCV000951078 pathogenic Bardet-Biedl syndrome 2019-12-27 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the BBS12 gene (p.Phe372*). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 339 amino acids of the BBS12 protein. This variant is present in population databases (rs753781824, ExAC 0.01%). This variant has been observed in individuals affected with Bardet-Biedl syndrome (PMID: 17160889, 20827784, 24611592). It is also known as 1114delTT in the literature. ClinVar contains an entry for this variant (Variation ID: 1151). For these reasons, this variant has been classified as Pathogenic.
Blueprint Genetics RCV001073576 SCV001239127 pathogenic Retinal dystrophy 2019-06-29 criteria provided, single submitter clinical testing
OMIM RCV000001210 SCV000021360 pathogenic Bardet-Biedl syndrome 12 2007-01-01 no assertion criteria provided literature only
Laboratory of Medical Genetics, INSERM RCV000735936 SCV000839574 pathogenic Bardet-Biedl syndrome 2018-09-15 no assertion criteria provided provider interpretation

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.