ClinVar Miner

Submissions for variant NM_001384140.1(PCDH15):c.2645_2646del (p.Asp881_Tyr882insTer)

dbSNP: rs1589950125
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
Mendelics RCV000988361 SCV001138049 pathogenic Usher syndrome type 1F 2019-05-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001388718 SCV001589794 pathogenic not provided 2023-03-16 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 802573). This variant is also known as c.2644_2645del (p.Tyr882fs*0). This premature translational stop signal has been observed in individual(s) with Usher syndrome (PMID: 32467589). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Tyr882*) in the PCDH15 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PCDH15 are known to be pathogenic (PMID: 11398101, 11487575, 14570705).
Baylor Genetics RCV003473534 SCV004200823 pathogenic Autosomal recessive nonsyndromic hearing loss 23 2023-05-21 flagged submission 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.