ClinVar Miner

Submissions for variant NM_001384140.1(PCDH15):c.128T>C (p.Ile43Thr)

gnomAD frequency: 0.00003  dbSNP: rs766772151
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Total submissions: 4
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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 RCV000222910 SCV000272293 uncertain significance not specified 2015-07-26 criteria provided, single submitter clinical testing The p.Ile43Thr variant in PCDH15 has not been previously reported in individuals with hearing loss, but has been identified in 2/66624 European chromosomes by t he Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs7 66772151). Computational prediction tools and conservation analysis do not provi de strong support for or against an impact to the protein. In summary, the clini cal significance of the p.Ile43Thr variant is uncertain.
Labcorp Genetics (formerly Invitae), Labcorp RCV002518184 SCV003476922 uncertain significance not provided 2021-12-29 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 43 of the PCDH15 protein (p.Ile43Thr). This variant is present in population databases (rs766772151, gnomAD 0.003%). 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: 229132). 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: "Tolerated"; PolyPhen-2: "Possibly Damaging"; 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.
Mayo Clinic Laboratories, Mayo Clinic RCV002518184 SCV005411006 uncertain significance not provided 2024-07-24 criteria provided, single submitter clinical testing PM2
Natera, Inc. RCV001828082 SCV002086059 uncertain significance Usher syndrome type 1F 2019-11-11 no assertion criteria provided clinical testing

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