ClinVar Miner

Submissions for variant NM_033056.4(PCDH15):c.2785C>T (p.Arg929Ter) (rs1057516342)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000412338 SCV000485499 likely pathogenic Usher syndrome, type 1F 2015-12-22 criteria provided, single submitter clinical testing
Invitae RCV000811416 SCV000951682 pathogenic not provided 2018-12-03 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg929*) in the PCDH15 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in several individuals affected with Usher syndrome (PMID: 25425308, 15660226, 25307757). ClinVar contains an entry for this variant (Variation ID: 370242). Loss-of-function variants in PCDH15 are known to be pathogenic (PMID: 11398101, 11487575, 14570705). For these reasons, this variant has been classified as Pathogenic.
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery,Institute of Otolaryngology, Chinese PLA General Hospital RCV000770852 SCV000902354 pathogenic Deafness, autosomal recessive 23 2019-02-26 no assertion criteria provided case-control

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