Submissions for variant NM_001142800.2(EYS):c.1211dup (p.Asn404fs)

dbSNP: rs764163418

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001052822	SCV001217051	pathogenic	not provided	2023-09-21	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.Asn404Lysfs*3) 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 (rs764163418, gnomAD 0.01%). This premature translational stop signal has been observed in individual(s) with retinitis pigmentosa (PMID: 20375346). ClinVar contains an entry for this variant (Variation ID: 636023). For these reasons, this variant has been classified as Pathogenic.
Revvity Omics, Revvity	RCV001784398	SCV002024532	likely pathogenic	Retinitis pigmentosa 25	2021-09-17	criteria provided, single submitter	clinical testing
Baylor Genetics	RCV001784398	SCV004195212	pathogenic	Retinitis pigmentosa 25	2024-02-25	criteria provided, single submitter	clinical testing
Dept Of Ophthalmology, Nagoya University	RCV003889980	SCV004704663	pathogenic	Retinal dystrophy	2023-10-01	criteria provided, single submitter	research
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet	RCV000787589	SCV000926569	likely pathogenic	Retinitis pigmentosa	2018-04-01	no assertion criteria provided	research
Sharon lab, Hadassah-Hebrew University Medical Center	RCV000787589	SCV001161085	pathogenic	Retinitis pigmentosa	2019-06-23	no assertion criteria provided	research
Natera, Inc.	RCV001784398	SCV002076678	pathogenic	Retinitis pigmentosa 25	2021-02-01	no assertion criteria provided	clinical testing