ClinVar Miner

Submissions for variant NM_001142800.2(EYS):c.7115T>A (p.Phe2372Tyr)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Siriraj Ophthalmic Genetics Research, Faculty of Medicine Siriraj Hospital, Mahidol University RCV002444360 SCV002754570 likely pathogenic Retinitis pigmentosa 25 2022-05-01 criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV003103036 SCV003283514 uncertain significance not provided 2022-06-27 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine, which is neutral and non-polar, with tyrosine, which is neutral and polar, at codon 2372 of the EYS protein (p.Phe2372Tyr). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with retinitis pigmentosa (PMID: 29159838). 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 tolerated. 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.

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