ClinVar Miner

Submissions for variant NM_033056.4(PCDH15):c.4024C>A (p.Gln1342Lys) (rs61731387)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000514851 SCV000609593 likely benign not provided 2017-02-24 criteria provided, single submitter clinical testing
Counsyl RCV000671678 SCV000796677 likely benign Usher syndrome, type 1F 2017-12-28 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000039736 SCV000229338 benign not specified 2014-05-15 criteria provided, single submitter clinical testing
GeneDx RCV000039736 SCV000514047 likely benign not specified 2017-12-04 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 RCV000039736 SCV000063425 benign not specified 2012-03-22 criteria provided, single submitter clinical testing Gln1342Lys in exon 32 of PCDH15: This variant has been reported in the literatur e in an individual with Usher Type 1 and was not identified in 100 unaffected co ntrols (Ouyang 2005). However, this individual did not have a second pathogenic variant identified on the other allele. In addition, this variant was identified in our laboratory in an individual who did not have a PCDH15 variant on the oth er allele and the variant did not segregate with hearing loss and retinitis pigm entosa in that family. In addition, this variant is not expected to have clinica l significance because it has been identified in 2.3% (87/3738) of African Ameri can chromosomes in a broad population by the NHLBI Exome sequencing project (htt p://evs.gs.washington.edu/EVS/; rs61731387)

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