ClinVar Miner

Submissions for variant NM_024790.6(CSPP1):c.2708del (p.Asn903fs) (rs863225190)

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
UW Hindbrain Malformation Research Program,University of Washington RCV000201696 SCV000256396 pathogenic Joubert syndrome 21 2015-02-23 criteria provided, single submitter research
Invitae RCV000201696 SCV000773863 pathogenic Joubert syndrome 21 2019-09-24 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asn903Metfs*2) in the CSPP1 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs781185694, ExAC 0.03%). This variant has been reported as homozygous in an individual affected with Joubert syndrome (PMID: 24360808). Loss-of-function variants in CSPP1 are known to be pathogenic (PMID: 24360807, 24360808). For these reasons, this variant has been classified as Pathogenic.

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.