Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001365216 | SCV001561479 | uncertain significance | not provided | 2023-12-06 | 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 3475 of the USH2A protein (p.Arg3475Gly). This variant is present in population databases (rs141098637, gnomAD 0.007%). This missense change has been observed in individuals with retinitis pigmentosa (Invitae). ClinVar contains an entry for this variant (Variation ID: 1056394). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on USH2A 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 | RCV002550052 | SCV003618592 | uncertain significance | Inborn genetic diseases | 2022-04-22 | criteria provided, single submitter | clinical testing | The c.10423A>G (p.R3475G) alteration is located in exon 53 (coding exon 52) of the USH2A gene. This alteration results from a A to G substitution at nucleotide position 10423, causing the arginine (R) at amino acid position 3475 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Genome- |
RCV003450023 | SCV004182561 | uncertain significance | Retinitis pigmentosa 39 | 2023-11-04 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003450022 | SCV004182562 | uncertain significance | Usher syndrome type 2A | 2023-11-04 | criteria provided, single submitter | clinical testing |