Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
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- |
RCV003449735 | SCV004181735 | uncertain significance | Retinitis pigmentosa 39 | 2023-11-04 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001834050 | SCV004181737 | uncertain significance | Usher syndrome type 2A | 2023-11-04 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001834050 | SCV002090906 | uncertain significance | Usher syndrome type 2A | 2020-03-17 | no assertion criteria provided | clinical testing |