Submissions for variant NM_001142800.2(EYS):c.2826_2827del (p.Val944fs)

gnomAD frequency: 0.00001  dbSNP: rs878853349

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001055385	SCV001219773	pathogenic	not provided	2024-01-07	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.Val944Glyfs*9) 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 (no rsID available, gnomAD 0.01%). This premature translational stop signal has been observed in individual(s) with autosomal recessive retinitis pigmentosa (PMID: 26806561, 28704921). ClinVar contains an entry for this variant (Variation ID: 236446). For these reasons, this variant has been classified as Pathogenic.
Blueprint Genetics	RCV000225412	SCV001240042	pathogenic	Retinal dystrophy	2017-05-16	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001055385	SCV001248829	pathogenic	not provided	2017-03-01	criteria provided, single submitter	clinical testing
INSERM U1051, Institut des Neurosciences de Montpellier	RCV001249880	SCV001424155	pathogenic	Retinitis pigmentosa	2020-06-24	criteria provided, single submitter	research
Ocular Genomics Institute, Massachusetts Eye and Ear	RCV001376517	SCV001573694	pathogenic	Retinitis pigmentosa 25	2021-04-08	criteria provided, single submitter	research	The EYS c.2826_2827del variant was identified in an individual with retinitis pigmentosa with a presumed recessive inheritance pattern. Through a review of available evidence we were able to apply the following criteria: PVS1, PM2, PS1, PM3. Based on this evidence we have classified this variant as Pathogenic.
Revvity Omics, Revvity	RCV001376517	SCV003823900	pathogenic	Retinitis pigmentosa 25	2022-03-07	criteria provided, single submitter	clinical testing
Baylor Genetics	RCV001376517	SCV004195262	pathogenic	Retinitis pigmentosa 25	2023-12-19	criteria provided, single submitter	clinical testing
Dept Of Ophthalmology, Nagoya University	RCV000225412	SCV004707550	pathogenic	Retinal dystrophy	2023-10-01	criteria provided, single submitter	research
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals	RCV000225412	SCV000282552	likely pathogenic	Retinal dystrophy		no assertion criteria provided	clinical testing
Natera, Inc.	RCV001249880	SCV001459439	pathogenic	Retinitis pigmentosa	2020-09-16	no assertion criteria provided	clinical testing