Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000667080 | SCV000791475 | uncertain significance | Retinitis pigmentosa 25 | 2017-05-17 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001245737 | SCV001419042 | uncertain significance | not provided | 2022-10-17 | criteria provided, single submitter | clinical testing | This sequence change replaces isoleucine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 1232 of the EYS protein (p.Ile1232Thr). This variant is present in population databases (rs146413074, gnomAD 0.04%). This missense change has been observed in individual(s) with retinitis pigmentosa (PMID: 22164218, 29159838). ClinVar contains an entry for this variant (Variation ID: 551910). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The threonine 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.Ile232 amino acid residue in EYS. Other variant(s) that disrupt this residue have been observed in individuals with EYS-related conditions (PMID: 20333770), which suggests that this may be a clinically significant amino acid residue. 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. |
Fulgent Genetics, |
RCV000667080 | SCV002777380 | uncertain significance | Retinitis pigmentosa 25 | 2021-09-08 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV000667080 | SCV002084405 | uncertain significance | Retinitis pigmentosa 25 | 2020-08-31 | no assertion criteria provided | clinical testing |