ClinVar Miner

Submissions for variant NM_001142800.2(EYS):c.2596T>C (p.Cys866Arg)

gnomAD frequency: 0.00025  dbSNP: rs369966951
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001047231 SCV001211171 uncertain significance not provided 2022-08-22 criteria provided, single submitter clinical testing This sequence change replaces cysteine, which is neutral and slightly polar, with arginine, which is basic and polar, at codon 866 of the EYS protein (p.Cys866Arg). This variant is present in population databases (rs369966951, gnomAD 0.04%). This variant has not been reported in the literature in individuals affected with EYS-related conditions. ClinVar contains an entry for this variant (Variation ID: 844397). 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.
Blueprint Genetics RCV001075556 SCV001241182 uncertain significance Retinal dystrophy 2018-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV002553159 SCV003694643 uncertain significance Inborn genetic diseases 2023-12-16 criteria provided, single submitter clinical testing The c.2596T>C (p.C866R) alteration is located in exon 16 (coding exon 13) of the EYS gene. This alteration results from a T to C substitution at nucleotide position 2596, causing the cysteine (C) at amino acid position 866 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001274986 SCV001459632 uncertain significance Retinitis pigmentosa 2020-04-17 no assertion criteria provided clinical testing

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