ClinVar Miner

Submissions for variant NM_001142800.2(EYS):c.35T>C (p.Met12Thr)

gnomAD frequency: 0.00006  dbSNP: rs755947942
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001092365 SCV001248833 pathogenic not provided 2016-09-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001092365 SCV001406272 uncertain significance not provided 2021-08-31 criteria provided, single submitter clinical testing This sequence change replaces methionine with threonine at codon 12 of the EYS protein (p.Met12Thr). The methionine residue is weakly conserved and there is a moderate physicochemical difference between methionine and threonine. This variant is present in population databases (rs755947942, ExAC 0.03%). This missense change has been observed in individual(s) with retinal disease (PMID: 26161267). 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.
Mendelics RCV002249681 SCV002517036 uncertain significance not specified 2022-05-04 criteria provided, single submitter clinical testing
Baylor Genetics RCV003469288 SCV004192898 likely pathogenic Retinitis pigmentosa 25 2023-12-26 criteria provided, single submitter clinical testing
Dept Of Ophthalmology, Nagoya University RCV003890233 SCV004704687 likely pathogenic Retinal dystrophy 2023-10-01 criteria provided, single submitter research

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