Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001873212 | SCV002289072 | likely pathogenic | not provided | 2023-05-27 | criteria provided, single submitter | clinical testing | This variant is present in population databases (rs140260219, gnomAD 0.007%). This sequence change replaces proline, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 3116 of the USH2A protein (p.Pro3116Thr). This missense change has been observed in individual(s) with clinical features of retinitis pigmentosa and/or Usher syndrome (PMID: 28944237, 30718709; Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely 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) 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. ClinVar contains an entry for this variant (Variation ID: 636228). |
| Baylor Genetics | RCV003467322 | SCV004206291 | likely pathogenic | Retinitis pigmentosa 39 | 2023-12-02 | criteria provided, single submitter | clinical testing | |
| Department of Clinical Genetics, |
RCV000787926 | SCV000926945 | uncertain significance | Retinitis pigmentosa | 2018-04-01 | no assertion criteria provided | research |