ClinVar Miner

Submissions for variant NM_001142800.2(EYS):c.8003G>T (p.Cys2668Phe)

gnomAD frequency: 0.00004  dbSNP: rs985211023
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000734443 SCV000862587 uncertain significance not provided 2018-07-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000734443 SCV001420203 uncertain significance not provided 2022-10-25 criteria provided, single submitter clinical testing This sequence change replaces cysteine, which is neutral and slightly polar, with phenylalanine, which is neutral and non-polar, at codon 2668 of the EYS protein (p.Cys2668Phe). This variant is present in population databases (no rsID available, gnomAD 0.02%). This missense change has been observed in individual(s) with retinitis pigmentosa (PMID: 22164218; Invitae). ClinVar contains an entry for this variant (Variation ID: 598124). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on EYS 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 RCV001830639 SCV002799789 uncertain significance Retinitis pigmentosa 25 2022-05-11 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Leipzig Medical Center RCV001830639 SCV004812094 uncertain significance Retinitis pigmentosa 25 2024-03-13 criteria provided, single submitter clinical testing Criteria applied: PM3,PM2_SUP,PP3
Natera, Inc. RCV001830639 SCV002083502 uncertain significance Retinitis pigmentosa 25 2020-10-30 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.