ClinVar Miner

Submissions for variant NM_001142800.2(EYS):c.6563T>C (p.Ile2188Thr)

gnomAD frequency: 0.00001  dbSNP: rs1562190751
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001213850 SCV001385501 pathogenic not provided 2023-09-18 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 2188 of the EYS protein (p.Ile2188Thr). This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. This variant disrupts the p.Ile2188 amino acid residue in EYS. Other variant(s) that disrupt this residue have been observed in individuals with EYS-related conditions (PMID: 31213501), which suggests that this may be a clinically significant amino acid residue. 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. ClinVar contains an entry for this variant (Variation ID: 943623). This missense change has been observed in individual(s) with autosomal recessive retinitis pigmentosa (PMID: 26161267, 29159838; Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant.
Baylor Genetics RCV003469359 SCV004192864 pathogenic Retinitis pigmentosa 25 2024-02-27 criteria provided, single submitter clinical testing
Dept Of Ophthalmology, Nagoya University RCV003887912 SCV004707463 pathogenic Retinal dystrophy 2023-10-01 criteria provided, single submitter research

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