ClinVar Miner

Submissions for variant NM_001384140.1(PCDH15):c.5054T>C (p.Val1685Ala)

gnomAD frequency: 0.00002  dbSNP: rs755487351
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000670257 SCV000795090 uncertain significance Usher syndrome type 1F 2017-10-26 criteria provided, single submitter clinical testing
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard RCV000670257 SCV003761099 uncertain significance Usher syndrome type 1F 2023-01-24 criteria provided, single submitter curation The p.Val1685Ala variant in PCDH15 has been reported in 1 individual, in the homozygous state, with Usher syndrome type 1F (PMID: 22952768) and has been identified in 0.008% (3/35362) of Latino/Admixed American chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP ID: rs140716525). 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#: 554592) and has been interpreted as a variant of uncertain significance by Counsyl. Computational prediction tools, including splice predictors, and conservation analyses suggest that this variant may not impact the protein, though this information is not predictive enough to rule out pathogenicity. In summary, the clinical significance of the p.Val1685Ala variant is uncertain. ACMG/AMP Criteria applied: PM2_supporting, PM3_supporting, BP4 (Richards 2015).

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