Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV002524410 | SCV003439451 | uncertain significance | not provided | 2023-08-27 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (gnomAD no frequency). This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 205 of the EYS protein (p.Pro205Ser). 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. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Not Available". The serine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. ClinVar contains an entry for this variant (Variation ID: 438202). This missense change has been observed in individual(s) with retinitis pigmentosa (PMID: 28041643). |
| NIHR Bioresource Rare Diseases, |
RCV000504636 | SCV000599158 | uncertain significance | Retinitis pigmentosa | 2015-01-01 | no assertion criteria provided | research |