ClinVar Miner

Submissions for variant NM_033056.4(PCDH15):c.5278_5286del (p.Pro1760_Pro1762del) (rs373916538)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000487227 SCV000570696 likely benign not specified 2016-06-28 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000487227 SCV000731542 likely benign not specified 2017-04-25 criteria provided, single submitter clinical testing p.Pro1760_Pro1762del in exon 33 of PCDH15: This variant is not expected to have clinical significance because it has been identified in 0.4% (77/20736) of Afric an chromosomes by the Genome Aggregation Database (gnomAD, http://exac.broadinst; dbSNP rs373916538).
Counsyl RCV000673254 SCV000798436 likely benign Usher syndrome type 1F 2018-03-05 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000487227 SCV000857618 likely benign not specified 2017-11-03 criteria provided, single submitter clinical testing
Invitae RCV001069767 SCV001234959 uncertain significance not provided 2020-01-02 criteria provided, single submitter clinical testing This variant, c.5278_5286del, results in the deletion of 3 amino acid(s) of the PCDH15 protein (p.Pro1760_Pro1762del), but otherwise preserves the integrity of the reading frame. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals with PCDH15-related conditions. ClinVar contains an entry for this variant (Variation ID: 421481). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.