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: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001057746 SCV001222255 likely pathogenic not provided 2024-01-09 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; Invitae). ClinVar contains an entry for this variant (Variation ID: 853016). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on EYS protein function. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely 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

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