Submissions for variant NM_001142800.2(EYS):c.8168del (p.Gln2723fs)

gnomAD frequency: 0.00001  dbSNP: rs1168101857

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Counsyl	RCV000674762	SCV000800155	likely pathogenic	Retinitis pigmentosa 25	2018-05-23	criteria provided, single submitter	clinical testing
Invitae	RCV001381410	SCV001579793	pathogenic	not provided	2023-12-18	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.Gln2723Argfs*18) in the EYS gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 422 amino acid(s) of the EYS protein. This variant is present in population databases (no rsID available, gnomAD 0.004%). This variant has not been reported in the literature in individuals affected with EYS-related conditions. ClinVar contains an entry for this variant (Variation ID: 558485). This variant disrupts a region of the EYS protein in which other variant(s) (p.Tyr3135*) have been determined to be pathogenic (PMID: 18976725, 30337596). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics	RCV000674762	SCV002775151	likely pathogenic	Retinitis pigmentosa 25	2022-01-13	criteria provided, single submitter	clinical testing
Baylor Genetics	RCV000674762	SCV004192947	pathogenic	Retinitis pigmentosa 25	2023-08-29	criteria provided, single submitter	clinical testing
Sharon lab, Hadassah-Hebrew University Medical Center	RCV001003013	SCV001161068	pathogenic	Retinitis pigmentosa	2019-06-23	no assertion criteria provided	research