ClinVar Miner

Submissions for variant NM_033056.4(PCDH15):c.5338C>T (p.Pro1780Ser)

dbSNP: rs751914445
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000825427 SCV000966725 uncertain significance not specified 2018-04-05 criteria provided, single submitter clinical testing The p.Pro1780Ser variant in PCDH15 has not been previously reported in individua ls with hearing loss or Usher syndrome, but has been identified in 1/70620 Europ ean and 1/10196 African chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org). Computational prediction tools and conservati on analysis suggest that the p.Pro1780Ser variant may not impact the protein, th ough this information is not predictive enough to rule out pathogenicity. In sum mary, the clinical significance of the p.Pro1780Ser variant is uncertain. ACMG/A MP Criteria applied: PM2_Supporting; BP4.
Natera, Inc. RCV001825680 SCV002081095 uncertain significance Usher syndrome type 1F 2020-12-25 no assertion criteria provided clinical testing

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