ClinVar Miner

Submissions for variant NM_001142800.2(EYS):c.6323G>A (p.Cys2108Tyr)

gnomAD frequency: 0.00004  dbSNP: rs770111708
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001580505 SCV001810416 likely pathogenic Retinitis pigmentosa 25 2021-07-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002524411 SCV003439492 uncertain significance not provided 2022-04-18 criteria provided, single submitter clinical testing This sequence change replaces cysteine, which is neutral and slightly polar, with tyrosine, which is neutral and polar, at codon 2108 of the EYS protein (p.Cys2108Tyr). This variant is present in population databases (rs770111708, gnomAD 0.004%). This missense change has been observed in individual(s) with retinitis pigmentosa (PMID: 28041643, 32581362). ClinVar contains an entry for this variant (Variation ID: 438203). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. 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 RCV000504836 SCV000599159 likely pathogenic Retinitis pigmentosa 2015-01-01 no assertion criteria provided research

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