ClinVar Miner

Submissions for variant NM_001142800.2(EYS):c.7994G>A (p.Gly2665Glu)

gnomAD frequency: 0.00003  dbSNP: rs1435861529
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002524412 SCV003439362 uncertain significance not provided 2022-10-24 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 2665 of the EYS protein (p.Gly2665Glu). This variant is present in population databases (no rsID available, gnomAD 0.007%). This missense change has been observed in individual(s) with retinal dystrophy (PMID: 28041643). ClinVar contains an entry for this variant (Variation ID: 438208). 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.
NIHR Bioresource Rare Diseases, University of Cambridge RCV000504927 SCV000599165 likely pathogenic Retinal dystrophy 2015-01-01 no assertion criteria provided research

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