ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.5992C>T (p.Arg1998Cys)

gnomAD frequency: 0.00001  dbSNP: rs777886737
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
Labcorp Genetics (formerly Invitae), Labcorp RCV001235925 SCV001408634 uncertain significance not provided 2022-05-05 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 1998 of the USH2A protein (p.Arg1998Cys). This variant is present in population databases (rs777886737, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with USH2A-related conditions. ClinVar contains an entry for this variant (Variation ID: 962124). 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.
Ambry Genetics RCV002563842 SCV003557740 uncertain significance Inborn genetic diseases 2021-07-06 criteria provided, single submitter clinical testing The c.5992C>T (p.R1998C) alteration is located in exon 30 (coding exon 29) of the USH2A gene. This alteration results from a C to T substitution at nucleotide position 5992, causing the arginine (R) at amino acid position 1998 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Genome-Nilou Lab RCV003449735 SCV004181735 uncertain significance Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001834050 SCV004181737 uncertain significance Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing
Natera, Inc. RCV001834050 SCV002090906 uncertain significance Usher syndrome type 2A 2020-03-17 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.