ClinVar Miner

Submissions for variant NM_001142800.2(EYS):c.7507G>A (p.Glu2503Lys)

gnomAD frequency: 0.00009  dbSNP: rs768964978
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000673128 SCV000798296 uncertain significance Retinitis pigmentosa 25 2018-03-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001855590 SCV002176311 uncertain significance not provided 2022-09-06 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 2503 of the EYS protein (p.Glu2503Lys). This variant is present in population databases (rs768964978, gnomAD 0.06%). This missense change has been observed in individual(s) with retinitis pigmentosa (PMID: 21069908). ClinVar contains an entry for this variant (Variation ID: 557040). 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 lysine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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 RCV000673128 SCV002793564 uncertain significance Retinitis pigmentosa 25 2021-11-17 criteria provided, single submitter 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.