ClinVar Miner

Submissions for variant NM_033056.4(PCDH15):c.4810A>G (p.Arg1604Gly)

gnomAD frequency: 0.00004  dbSNP: rs558224212
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001242765 SCV001415873 uncertain significance not provided 2022-10-25 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glycine, which is neutral and non-polar, at codon 1604 of the PCDH15 protein (p.Arg1604Gly). This variant is present in population databases (rs558224212, gnomAD 0.02%). 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: 967773). 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: "Benign"; 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.
Fulgent Genetics, Fulgent Genetics RCV002484337 SCV002783943 uncertain significance Autosomal recessive nonsyndromic hearing loss 23; Usher syndrome type 1D; Usher syndrome type 1F 2022-04-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV004034731 SCV004998841 uncertain significance Inborn genetic diseases 2023-11-29 criteria provided, single submitter clinical testing The c.4810A>G (p.R1604G) alteration is located in exon 33 (coding exon 32) of the PCDH15 gene. This alteration results from a A to G substitution at nucleotide position 4810, causing the arginine (R) at amino acid position 1604 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001829000 SCV002089193 uncertain significance Usher syndrome type 1F 2020-01-18 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.