ClinVar Miner

Submissions for variant NM_033056.4(PCDH15):c.5359C>T (p.Pro1787Ser) (rs61862390)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 8
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000039757 SCV000063446 benign not specified 2011-06-29 criteria provided, single submitter clinical testing Pro1787Ser in exon 33 of PCDH15: This variant is not expected to have clinical s ignificance because this residue is not highly conserved across species. Of note , rat has a serine at this position. In addition, computational analyses do not suggest a high likelihood of clinical significance and this variant is listed in dbSNP with a heterozygous frequency over 1% (rs61862390).
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000039757 SCV000114272 benign not specified 2013-09-20 criteria provided, single submitter clinical testing
GeneDx RCV000039757 SCV000170890 benign not specified 2013-05-20 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.
Counsyl RCV000169021 SCV000220167 likely benign Usher syndrome type 1F 2014-03-18 criteria provided, single submitter literature only
PreventionGenetics,PreventionGenetics RCV000039757 SCV000315070 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000343313 SCV000363112 likely benign 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 and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Illumina Clinical Services Laboratory,Illumina RCV000379328 SCV000363113 uncertain significance Nonsyndromic Hearing Loss, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000992510 SCV001144882 benign not provided 2019-07-10 criteria provided, single submitter clinical testing

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.