ClinVar Miner

Submissions for variant NM_001142800.2(EYS):c.8779T>C (p.Cys2927Arg)

gnomAD frequency: 0.00001  dbSNP: rs373203896
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000762414 SCV000892729 likely pathogenic not provided 2018-07-01 criteria provided, single submitter clinical testing
Blueprint Genetics RCV001073470 SCV001239013 likely pathogenic Retinal dystrophy 2019-03-11 criteria provided, single submitter clinical testing
Invitae RCV000762414 SCV002232337 pathogenic not provided 2023-12-03 criteria provided, single submitter clinical testing This sequence change replaces cysteine, which is neutral and slightly polar, with arginine, which is basic and polar, at codon 2927 of the EYS protein (p.Cys2927Arg). This variant is present in population databases (rs373203896, gnomAD 0.01%). This missense change has been observed in individual(s) with retinitis pigmentosa (PMID: 30718709, 31725169, 32728228; Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 624249). 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. For these reasons, this variant has been classified as Pathogenic.
Mendelics RCV002249466 SCV002519630 pathogenic Retinitis pigmentosa 25 2022-05-04 criteria provided, single submitter clinical testing
Baylor Genetics RCV002249466 SCV004195279 pathogenic Retinitis pigmentosa 25 2023-06-01 criteria provided, single submitter clinical testing
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet RCV000787601 SCV000926584 likely pathogenic Retinitis pigmentosa 2018-04-01 no assertion criteria provided research

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