Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV000998641 | SCV001154807 | uncertain significance | not provided | 2019-05-01 | criteria provided, single submitter | clinical testing | |
Blueprint Genetics | RCV001075538 | SCV001241164 | uncertain significance | Retinal dystrophy | 2018-12-18 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000998641 | SCV001411178 | likely pathogenic | not provided | 2024-01-29 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 2604 of the EYS protein (p.Arg2604His). This variant is present in population databases (rs368798160, gnomAD 0.01%). This missense change has been observed in individuals with retinitis pigmentosa (PMID: 29159838, 32531858, 36819107). ClinVar contains an entry for this variant (Variation ID: 809963). 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 histidine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. This variant disrupts the p.Arg2604 amino acid residue in EYS. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 20237254, 26161267, 30543658, 31213501). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. 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. |
MGZ Medical Genetics Center | RCV001832315 | SCV002581369 | likely pathogenic | Retinitis pigmentosa 25 | 2022-06-23 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000998641 | SCV003925780 | uncertain significance | not provided | 2022-11-18 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 32531858, 31074760, 29159838) |
Baylor Genetics | RCV001832315 | SCV004195211 | likely pathogenic | Retinitis pigmentosa 25 | 2023-08-15 | criteria provided, single submitter | clinical testing | |
Clinical Genetics, |
RCV000998641 | SCV001923769 | uncertain significance | not provided | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV000998641 | SCV001955111 | uncertain significance | not provided | no assertion criteria provided | clinical testing | ||
Natera, |
RCV001832315 | SCV002083509 | uncertain significance | Retinitis pigmentosa 25 | 2020-07-02 | no assertion criteria provided | clinical testing |