ClinVar Miner

Submissions for variant NM_001142800.2(EYS):c.3695T>C (p.Ile1232Thr)

gnomAD frequency: 0.00016  dbSNP: rs146413074
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
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, Fulgent Genetics RCV000667080 SCV002777380 uncertain significance Retinitis pigmentosa 25 2021-09-08 criteria provided, single submitter clinical testing
Natera, Inc. RCV000667080 SCV002084405 uncertain significance Retinitis pigmentosa 25 2020-08-31 no assertion criteria provided clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.