ClinVar Miner

Submissions for variant NM_018718.3(CEP41):c.423-2A>G

dbSNP: rs781815473
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001227158 SCV001399500 pathogenic Joubert syndrome 15 2022-09-14 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 954659). Disruption of this splice site has been observed in individual(s) with Joubert syndrome (PMID: 22246503). This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change affects an acceptor splice site in intron 6 of the CEP41 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in CEP41 are known to be pathogenic (PMID: 22246503).
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001573669 SCV001799891 uncertain significance not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001573669 SCV001964849 uncertain significance not provided no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004757385 SCV005366529 likely pathogenic CEP41-related disorder 2024-09-18 no assertion criteria provided clinical testing The CEP41 c.423-2A>G variant is predicted to disrupt the AG splice acceptor site and interfere with normal splicing. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.00088% of alleles in individuals of European (non-Finnish) descent in gnomAD. Variants that disrupt the consensus splice acceptor site in CEP41 are expected to be pathogenic. This variant is interpreted as likely 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.