ClinVar Miner

Submissions for variant NM_033056.4(PCDH15):c.3984-1G>C (rs1057520709)

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
GeneDx RCV000433340 SCV000517040 pathogenic not provided 2015-05-14 criteria provided, single submitter clinical testing The c.3984-1 G>C splice site variant in the PCDH15 gene destroys the canonical splice acceptor site inintron 29. It is predicted to cause abnormal gene splicing, either leading to an abnormal message that issubject to nonsense-mediated mRNA decay, or to an abnormal protein product if the message is used forprotein translation. The c.3984-1 G>C variant was not observed in approximately 6,500 individuals ofEuropean and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not acommon benign variant in these populations. Therefore, we interpret this variant as pathogenic.
Counsyl RCV000671775 SCV000796794 likely pathogenic Usher syndrome type 1F 2017-12-29 criteria provided, single submitter clinical testing

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.