ClinVar Miner

Submissions for variant NM_033056.4(PCDH15):c.2361_2363TGT[2] (p.Val790del) (rs483352837)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000220485 SCV000272298 uncertain significance not specified 2015-07-02 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Pathogenic. The p.Val790del variant in PCDH15 has been previously reported in the homozygous state in one i ndividual with sensorineural hearing loss and segregated in an affected family m ember. The affected individuals were reported to be age 18 and 28 years, and di d not report symptoms of night-blindness. However, electroretinograms were not o btained (Zhan 2015). This variant has been identified in several populations by the Exome Aggregation Consortium, with the highest allele count of 4/66722 in E uropean chromosomes (ExAC, http://exac.broadinstitute.org; dbSNP rs483352837). T his variant is a deletion of a valine (Val) residue at position 790 and is not p redicted to alter the protein reading-frame. It is unclear whether this deletio n impacts the protein. In summary, while there is some suspicion for a pathogeni c role, the clinical significance of the p.Val790del variant is uncertain.
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000114410 SCV000746395 pathogenic Deafness, autosomal recessive 23 2017-12-03 criteria provided, single submitter clinical testing
Counsyl RCV000675146 SCV000800745 uncertain significance Usher syndrome type 1F 2018-04-05 criteria provided, single submitter clinical testing
Institute of Otorhinolaryngology, The First affiliated hospital,Sun Yat-sen University RCV000114410 SCV000148342 pathogenic Deafness, autosomal recessive 23 no assertion criteria provided not provided Converted during submission to Pathogenic.

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