Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001219169 | SCV001391092 | likely pathogenic | not provided | 2024-01-02 | criteria provided, single submitter | clinical testing | This sequence change replaces leucine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 2158 of the EYS protein (p.Leu2158Pro). This variant is present in population databases (rs777735735, gnomAD 0.03%). This missense change has been observed in individuals with retinitis pigmentosa (PMID: 28041643, 32581362, 36819107; Invitae). ClinVar contains an entry for this variant (Variation ID: 438204). 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 EYS protein function. 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. |
Gene |
RCV001219169 | SCV001788595 | uncertain significance | not provided | 2021-05-17 | criteria provided, single submitter | clinical testing | In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 32581362, 28041643) |
Fulgent Genetics, |
RCV001834630 | SCV002801512 | uncertain significance | Retinitis pigmentosa 25 | 2022-04-20 | criteria provided, single submitter | clinical testing | |
NIHR Bioresource Rare Diseases, |
RCV000505095 | SCV000599160 | likely pathogenic | Retinitis pigmentosa | 2015-01-01 | no assertion criteria provided | research | |
Natera, |
RCV001834630 | SCV002084317 | uncertain significance | Retinitis pigmentosa 25 | 2020-09-18 | no assertion criteria provided | clinical testing |