ClinVar Miner

Submissions for variant NM_033056.4(PCDH15):c.2751+2T>C (rs754543131)

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
Counsyl RCV000668602 SCV000793231 likely pathogenic Usher syndrome type 1F 2017-08-07 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000826014 SCV000967502 uncertain significance not specified 2019-01-04 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Pathogenic. The c.2751+2T>C variant in PCDH15 has not been previously reported in individuals with hearing loss or Usher syndrome, but has been identified in 0.009% (3/34484) of Latino ch romosomes by gnomAD ( This variant occurs with in the canonical splice site (+/- 1,2). Although additional studies would be nee ded to determine its impact, this variant is predicted to cause altered splicing of exon 20. However, because a loss of exon 20 would preserve the protein readi ng frame, the biological impact of this variant is uncertain. In summary, while there is some suspicion for a pathogenic role, the clinical significance of this variant is uncertain. ACMG/AMP criteria applied: PM2_Supporting, PM4.

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.