ClinVar Miner

Submissions for variant NM_033056.4(PCDH15):c.5818_5820dup (p.Ile1940dup) (rs750168790)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000670274 SCV000795108 uncertain significance Usher syndrome type 1F 2017-10-27 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV001195251 SCV001365558 uncertain significance not specified 2019-07-30 criteria provided, single submitter clinical testing The p.Ile1940dup variant in PCDH15 has not been previously reported in individuals with hearing loss or Usher syndrome but has been identified in 0.006% (2/34500) of Latino chromosomes by gnomAD (http://gnomad.broadinstitute.org). This variant has also been reported in ClinVar (Variation ID 545502). This variant is a duplication of the isoleucine (Ile) residue at position 1940 and is not predicted to alter the protein reading-frame. It is unclear if this duplication will impact the protein. In summary, the clinical significance of this variant is uncertain. ACMG/AMP Criteria applied: PM2, PM4_Supporting.
Invitae RCV001226372 SCV001398684 uncertain significance not provided 2019-09-06 criteria provided, single submitter clinical testing This variant, c.5818_5820dup, results in the insertion of 1 amino acid(s) to the PCDH15 protein (p.Ile1940dup), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs750168790, ExAC 0.02%). This variant has not been reported in the literature in individuals with PCDH15-related conditions. ClinVar contains an entry for this variant (Variation ID: 554605). 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.