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 2024-10-08 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, 36513702). ClinVar contains an entry for this variant (Variation ID: 1799513). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt EYS protein function with a negative predictive value of 80%. 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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