ClinVar Miner

Submissions for variant NM_033056.4(PCDH15):c.5372C>T (p.Pro1791Leu)

gnomAD frequency: 0.00001  dbSNP: rs1268531021
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000611017 SCV000712272 uncertain significance not specified 2016-06-28 criteria provided, single submitter clinical testing The p.Pro1791Leu variant in PCDH15 has been previously reported in the heterozyg ous state in one individual with hearing loss, but a variant affecting the remai ning copy of the gene was not identified. It has not been identified in large po pulation studies. Computational prediction tools and conservation analysis sugge st that the p.Pro1791Leu variant may not impact the protein, though this informa tion is not predictive enough to rule out pathogenicity. In summary, the clinica l significance of the p.Pro1791Leu variant is uncertain.
Labcorp Genetics (formerly Invitae), Labcorp RCV002531141 SCV002942289 uncertain significance not provided 2024-10-21 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 1791 of the PCDH15 protein (p.Pro1791Leu). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. 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: 505142). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt PCDH15 protein function with a negative predictive value of 95%. 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. RCV001834924 SCV002077460 uncertain significance Usher syndrome type 1F 2021-02-09 no assertion criteria provided clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.