ClinVar Miner

Submissions for variant NM_033056.4(PCDH15):c.4987dup (p.Cys1663fs)

dbSNP: rs775238614
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 RCV000669179 SCV000793905 uncertain significance Usher syndrome type 1F 2017-09-12 criteria provided, single submitter clinical testing
Invitae RCV002531220 SCV003506536 uncertain significance not provided 2022-09-06 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Cys1663Leufs*26) in the PCDH15 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 293 amino acid(s) of the PCDH15 protein. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with PCDH15-related conditions. ClinVar contains an entry for this variant (Variation ID: 553676). 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.