ClinVar Miner

Submissions for variant NM_033056.4(PCDH15):c.5726G>A (p.Arg1909His)

gnomAD frequency: 0.00010  dbSNP: rs145851144
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
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 RCV000039767 SCV000063456 uncertain significance not specified 2016-03-14 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The p.Arg1909His va riant in PCDH15 has been identified by our laboratory in one individual with hea ring loss who did not have a second PCDH15 variant. This variant has also been i dentified in 14/121438 chromosomes by the Exome Aggregation Consortium (ExAC, ht tp://exac.broadinstitute.org; dbSNP rs145851144). Computational prediction tools and conservation analyses suggest that the p.Arg1909His variant may not impact the protein, though this information is not predictive enough to rule out pathog enicity. In summary, while the clinical significance of the p.Arg1909His variant is uncertain, these data suggest that it is more likely to be benign.
Counsyl RCV000671807 SCV000796828 uncertain significance Usher syndrome type 1F 2018-01-08 criteria provided, single submitter clinical testing
GeneDx RCV001548684 SCV001768639 uncertain significance not provided 2025-01-24 criteria provided, single submitter clinical testing Reported in published literature (as R1889H using alternate nomenclature) as a single heterozygous variant in a patient with retinitis pigmentosa who had a different suggested genetic etiology for the phenotype (PMID: 25692139); In silico analysis indicates that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 25692139)
Labcorp Genetics (formerly Invitae), Labcorp RCV001548684 SCV003274562 likely benign not provided 2025-01-29 criteria provided, single submitter clinical testing
Natera, Inc. RCV000671807 SCV002080030 uncertain significance Usher syndrome type 1F 2020-02-03 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.