ClinVar Miner

Submissions for variant NM_001384140.1(PCDH15):c.875C>G (p.Pro292Arg)

dbSNP: rs138744579
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000674085 SCV000799359 uncertain significance Usher syndrome type 1F 2018-04-16 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001092481 SCV001249009 uncertain significance not provided 2019-08-01 criteria provided, single submitter clinical testing
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard RCV000674085 SCV003761105 uncertain significance Usher syndrome type 1F 2023-01-24 criteria provided, single submitter curation The p.Pro292Arg variant in PCDH15 has been reported in 1 individual with Usher syndrome type 1F (PMID: 24498627) and has been identified in 0.0009% (1/113578) of European (non-Finnish) chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP ID: rs138744579). Although this variant has been seen in the general population in a heterozygous state, its frequency is low enough to be consistent with a recessive carrier frequency. This variant has also been reported in ClinVar (Variation ID#: 557886) and has been interpreted as a variant of uncertain significance by Counsyl and CeGaT Center for Human Genetics Tuebingen. Computational prediction tools and conservation analyses do not provide strong support for or against an impact to the protein. In summary, the clinical significance of the p.Pro292Arg variant is uncertain. ACMG/AMP Criteria applied: PM2_supporting (Richards 2015).

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