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

gnomAD frequency: 0.00011  dbSNP: rs76754818

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	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
Natera, Inc.	RCV001277017	SCV001463749	uncertain significance	Retinitis pigmentosa 25	2020-06-16	no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003903137	SCV004723501	likely benign	EYS-related disorder	2020-04-03	no assertion criteria provided	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).