ClinVar Miner

Submissions for variant NM_001142800.2(EYS):c.9059T>C (p.Ile3020Thr)

gnomAD frequency: 0.00001  dbSNP: rs948998853
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001057746 SCV001222255 pathogenic not provided 2024-12-10 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 3020 of the EYS protein (p.Ile3020Thr). This variant is present in population databases (no rsID available, gnomAD 0.004%). This missense change has been observed in individuals with retinitis pigmentosa (PMID: 26787102, 31213501, 36819107; internal data). ClinVar contains an entry for this variant (Variation ID: 853016). 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 expected to disrupt EYS protein function with a positive predictive value of 80%. For these reasons, this variant has been classified as Pathogenic.
Mendelics RCV002249665 SCV002519625 pathogenic Retinitis pigmentosa 25 2022-05-04 criteria provided, single submitter clinical testing
Baylor Genetics RCV002249665 SCV004192954 likely pathogenic Retinitis pigmentosa 25 2023-12-30 criteria provided, single submitter clinical testing
Dept Of Ophthalmology, Nagoya University RCV003890204 SCV004707381 uncertain significance Retinal dystrophy 2023-10-01 criteria provided, single submitter research
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV003890204 SCV005070544 likely pathogenic Retinal dystrophy 2020-01-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002249665 SCV005673231 likely pathogenic Retinitis pigmentosa 25 2024-02-13 criteria provided, single submitter clinical testing

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