ClinVar Miner

Submissions for variant NM_033056.4(PCDH15):c.5598_5600AAC[1] (p.Thr1869del) (rs113363047)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000039764 SCV000063453 benign not specified 2011-09-17 criteria provided, single submitter clinical testing Thr1869del in exon 33 of PCDH15: This variant has been reported in 4 individuals with Usher syndrome and one individual with hearing loss, and was absent in 100 control chromosomes (Ouyang 2005, Zheng 2005, Bonnet 2011). However, three of t he Usher syndrome probands did not have a second PCDH15 variant identified, incl uding two probands who had pathogenic variants in another gene. The fourth Usher syndrome proband carried the variant in the compound heterozygous state with an other PCDH15 variant which we feel does not have evidence for pathogenicity. The proband with hearing loss carried this variant in the homozygous state; this is inconsistent with the phenotype expected of two pathogenic PCDH15 variants. Thi s variant has also been identified by our laboratory in two probands, both of wh om carry pathogenic or likely pathogenic variants in other genes. Furthermore, G ET-Evidence database (http://evidence.personalgenomes.org) reports this variant at a frequency of 6% (8/128 chromosomes). In summary, based upon the observation s to date, we feel this variant is likely benign.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000039764 SCV000203200 benign not specified 2013-12-17 criteria provided, single submitter clinical testing
GeneDx RCV000039764 SCV000565362 benign not specified 2016-06-22 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.
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000514811 SCV000609994 benign not provided 2017-02-24 criteria provided, single submitter clinical testing
Invitae RCV000514811 SCV001110665 benign not provided 2019-03-05 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000514811 SCV001144885 benign not provided 2018-11-12 criteria provided, single submitter clinical testing
GeneReviews RCV000215699 SCV000268760 pathogenic Usher syndrome, type 1 2016-05-19 no assertion criteria provided literature only

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