ClinVar Miner

Submissions for variant NM_023073.3(CPLANE1):c.7588+7A>G

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000706269 SCV000835309 uncertain significance Orofaciodigital syndrome 6; Joubert syndrome 17 2018-06-05 criteria provided, single submitter clinical testing This sequence change falls in intron 37 of the C5orf42 gene. It does not directly change the encoded amino acid sequence of the C5orf42 protein. This variant is present in population databases (rs773662834, ExAC 0.009%). This variant has been reported as in combination with other C5orf42 variants in individuals affected with Joubert syndrome (PMID: 28431631). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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.

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.