ClinVar Miner

Submissions for variant NM_023073.3(CPLANE1):c.5557C>T (p.Gln1853Ter)

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 RCV001039457 SCV001202987 pathogenic not provided 2019-11-20 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln1853*) in the CPLANE1 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs766699868, ExAC 0.02%). This variant has been observed in individual(s) with clinical features of Joubert syndrome (PMID: 28976722). Loss-of-function variants in CPLANE1 are known to be pathogenic (PMID: 22425360, 24178751). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV001332486 SCV001524826 pathogenic Orofaciodigital syndrome type 6 2019-11-18 criteria provided, single submitter clinical testing This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].

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.