ClinVar Miner

Submissions for variant NM_033056.4(PCDH15):c.5389C>T (p.Pro1797Ser)

gnomAD frequency: 0.00001  dbSNP: rs775203432
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Total submissions: 3
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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 RCV001195249 SCV001365556 uncertain significance not specified 2019-07-24 criteria provided, single submitter clinical testing The p.Pro1797Ser variant in PCDH15 has not been previously reported in individuals with hearing loss or Usher syndrome, but has been identified in 0.01% (4/28314) of South Asian chromosomes by gnomAD (http://gnomad.broadinstitute.org). Computational prediction tools 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 this variant is uncertain. ACMG/AMP Criteria applied: PM2_Supporting, BP4.
Labcorp Genetics (formerly Invitae), Labcorp RCV002560192 SCV003506334 uncertain significance not provided 2022-01-16 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 1797 of the PCDH15 protein (p.Pro1797Ser). This variant is present in population databases (rs775203432, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with PCDH15-related conditions. ClinVar contains an entry for this variant (Variation ID: 929911). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Not Available"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Natera, Inc. RCV001833755 SCV002085192 uncertain significance Usher syndrome type 1F 2020-03-01 no assertion criteria provided clinical testing

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