ClinVar Miner

Submissions for variant NM_001142800.2(EYS):c.1382G>A (p.Cys461Tyr)

gnomAD frequency: 0.00011  dbSNP: rs76754818
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000942122 SCV001088039 likely benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001162943 SCV001324932 likely benign Retinitis pigmentosa 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
GeneDx RCV000942122 SCV001766641 uncertain significance not provided 2020-08-31 criteria provided, single submitter clinical testing Observed in an individual in published literature with retinitis pigmentosa with no second EYS variant identified (Littink et al., 2010); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 25096270, 20537394, 22363543)
Dept Of Ophthalmology, Nagoya University RCV003890096 SCV004704660 benign Retinal dystrophy 2023-10-01 criteria provided, single submitter research
PreventionGenetics, part of Exact Sciences RCV003903137 SCV004723501 likely benign EYS-related condition 2020-04-03 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Natera, Inc. RCV001277017 SCV001463749 uncertain significance Retinitis pigmentosa 25 2020-06-16 no assertion criteria provided clinical testing

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