ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.6397T>C (p.Trp2133Arg)

gnomAD frequency: 0.00004  dbSNP: rs370643158
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001373432 SCV001570147 uncertain significance not provided 2022-02-02 criteria provided, single submitter clinical testing This sequence change replaces tryptophan, which is neutral and slightly polar, with arginine, which is basic and polar, at codon 2133 of the USH2A protein (p.Trp2133Arg). This variant is present in population databases (rs370643158, gnomAD 0.01%). 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: 1063582). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The arginine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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 RCV002548672 SCV003533702 uncertain significance Inborn genetic diseases 2021-08-17 criteria provided, single submitter clinical testing The c.6397T>C (p.W2133R) alteration is located in exon 33 (coding exon 32) of the USH2A gene. This alteration results from a T to C substitution at nucleotide position 6397, causing the tryptophan (W) at amino acid position 2133 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Genome-Nilou Lab RCV003450028 SCV004181668 uncertain significance Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001836380 SCV004181669 uncertain significance Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing
Natera, Inc. RCV001836380 SCV002090888 uncertain significance Usher syndrome type 2A 2020-01-17 no assertion criteria provided clinical testing

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