Submissions for variant NM_001142800.2(EYS):c.8155_8156del (p.His2719fs)

dbSNP: rs764229134

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Counsyl	RCV000670357	SCV000795199	likely pathogenic	Retinitis pigmentosa 25	2017-11-01	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001389826	SCV001591319	pathogenic	not provided	2023-05-20	criteria provided, single submitter	clinical testing	This variant is present in population databases (rs764229134, gnomAD 0.002%). This sequence change creates a premature translational stop signal (p.His2719Tyrfs*27) in the EYS gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 426 amino acid(s) of the EYS protein. This premature translational stop signal has been observed in individuals with recessive retinitis pigmentosa (PMID: 20375346). ClinVar contains an entry for this variant (Variation ID: 554682). This variant is also known as c.8218_8219delCA. For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the EYS protein in which other variant(s) (p.Tyr2935*) have been determined to be pathogenic (PMID: 22363543, 24652164, 28763560). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing.
Baylor Genetics	RCV000670357	SCV004195234	pathogenic	Retinitis pigmentosa 25	2024-03-18	criteria provided, single submitter	clinical testing
Sharon lab, Hadassah-Hebrew University Medical Center	RCV001003015	SCV001161070	pathogenic	Retinitis pigmentosa	2019-06-23	no assertion criteria provided	research
Natera, Inc.	RCV000670357	SCV002083496	pathogenic	Retinitis pigmentosa 25	2020-11-18	no assertion criteria provided	clinical testing