ClinVar Miner

Submissions for variant NM_001384140.1(PCDH15):c.92-528C>T

gnomAD frequency: 0.00001  dbSNP: rs190773725
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard RCV002560269 SCV003761097 uncertain significance Usher syndrome type 1F 2023-01-24 criteria provided, single submitter curation The c.92-528C>T variant in PCDH15 has been reported in 1 individual with Usher syndrome type 1F (PMID: 33089500), and has been identified in 0.01% (3/20342) of African/African American chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP ID: rs190773725). Although this variant has been seen in the general population in a heterozygous state, its frequency is not high enough to rule out a pathogenic role. This variant has also been reported in ClinVar (Variation ID#: 932235) and has been interpreted as pathogenic by National Institute on Deafness and Communication Disorders (National Institutes of Health). This variant is located in the 5' splice region. Computational tools do not suggest an impact to splicing. However, this information is not predictive enough to rule out pathogenicity. In summary, the clinical significance of the c.92-528C>T variant is uncertain. ACMG/AMP Criteria applied: none (Richards 2015).
National Institute on Deafness and Communication Disorders, National Institutes of Health RCV001199961 SCV001370758 pathogenic Usher syndrome type 1D 2019-12-10 no assertion criteria provided research

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