ClinVar Miner

Submissions for variant NM_033056.4(PCDH15):c.593C>T (p.Pro198Leu) (rs145232643)

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
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000039768 SCV000063457 uncertain significance not specified 2017-03-31 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The p.Pro198Leu var iant in PCDH15 has been previously identified by our laboratory in three individ uals with hearing loss who did not have a second PCDH15 variant. This variant ha s also been identified in 21/66572 European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs145232643). Although this variant has been seen in the general population, its frequency is not high enough to rule out a pathogenic role. Computational prediction tools and conserv ation analyses suggest that this variant may not impact the protein, though this information is not predictive enough to rule out pathogenicity. In summary, whi le the clinical significance of the p.Pro198Leu variant is uncertain, available data suggest that it is more likely to be benign.
Illumina Clinical Services Laboratory,Illumina RCV000342486 SCV000363238 uncertain significance Nonsyndromic Hearing Loss, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000378841 SCV000363239 uncertain significance Usher syndrome type 1 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.

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.