Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Centre for Mendelian Genomics, |
RCV001196069 | SCV001366510 | uncertain significance | Retinitis pigmentosa 60 | 2019-02-22 | criteria provided, single submitter | clinical testing | This variant was classified as: Uncertain significance. The available evidence on this variant's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: BP4. |
| Labcorp Genetics |
RCV001308855 | SCV001498329 | uncertain significance | not provided | 2023-09-14 | criteria provided, single submitter | clinical testing | This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 919 of the PRPF6 protein (p.Ile919Val). 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. 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 PRPF6 protein function. ClinVar contains an entry for this variant (Variation ID: 930421). This variant has not been reported in the literature in individuals affected with PRPF6-related conditions. This variant is present in population databases (rs149771221, gnomAD 0.006%). |
| Institute of Human Genetics, |
RCV004813838 | SCV005069865 | uncertain significance | Retinal dystrophy | 2021-01-01 | no assertion criteria provided | clinical testing |