Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001953352 | SCV002218432 | pathogenic | not provided | 2022-10-17 | criteria provided, single submitter | clinical testing | This missense change has been observed in individual(s) with Usher syndrome (PMID: 25404053, 29142287). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is present in population databases (rs755435330, gnomAD 0.0009%). This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 90 of the USH2A protein (p.Tyr90Cys). ClinVar contains an entry for this variant (Variation ID: 1443145). For these reasons, this variant has been classified as Pathogenic. 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) performed at Invitae indicates that this missense variant is not expected to disrupt USH2A protein function. |
| Baylor Genetics | RCV003475194 | SCV004200687 | likely pathogenic | Retinitis pigmentosa 39 | 2023-06-08 | criteria provided, single submitter | clinical testing |