Submissions for variant NM_001142800.2(EYS):c.1673G>A (p.Trp558Ter)

gnomAD frequency: 0.00012  dbSNP: rs201823777

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000625445	SCV000745371	pathogenic	Retinitis pigmentosa 25	2015-11-23	criteria provided, single submitter	clinical testing
Invitae	RCV001058505	SCV001223081	pathogenic	not provided	2024-01-21	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.Trp558*) in the EYS gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in EYS are known to be pathogenic (PMID: 18836446, 20333770). This variant is present in population databases (rs201823777, gnomAD 0.02%). This premature translational stop signal has been observed in individual(s) with retinitis pigmentosa (PMID: 20333770, 20537394). 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: 522342). For these reasons, this variant has been classified as Pathogenic.
Blueprint Genetics	RCV001073246	SCV001238782	pathogenic	Retinal dystrophy	2018-08-29	criteria provided, single submitter	clinical testing
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen	RCV001058505	SCV001446872	pathogenic	not provided	2020-10-23	criteria provided, single submitter	clinical testing
GeneDx	RCV001058505	SCV001814326	pathogenic	not provided	2021-03-10	criteria provided, single submitter	clinical testing	Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 31574917, 31963847, 20333770, 26103963, 20537394, 25525159, 31074760, 32032261)
Revvity Omics, Revvity	RCV000625445	SCV003823933	pathogenic	Retinitis pigmentosa 25	2022-02-03	criteria provided, single submitter	clinical testing
Baylor Genetics	RCV000625445	SCV004192928	pathogenic	Retinitis pigmentosa 25	2023-09-17	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV001276908	SCV001463561	pathogenic	Retinitis pigmentosa	2020-09-16	no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV001058505	SCV001809421	pathogenic	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV001058505	SCV001925288	pathogenic	not provided		no assertion criteria provided	clinical testing