Submissions for variant NM_001142800.2(EYS):c.1961dup (p.Asn654fs)

dbSNP: rs749103801

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001862720	SCV002192563	pathogenic	not provided	2023-08-07	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.Asn654Lysfs*5) 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 (rs749103801, gnomAD 0.006%). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 812318). This variant is also known as c.1961_1962insA. This premature translational stop signal has been observed in individual(s) with retinitis pigmentosa (PMID: 29550188).
Fulgent Genetics, Fulgent Genetics	RCV002497324	SCV002810701	likely pathogenic	Retinitis pigmentosa 25	2024-01-29	criteria provided, single submitter	clinical testing
Baylor Genetics	RCV002497324	SCV004195244	pathogenic	Retinitis pigmentosa 25	2024-03-11	criteria provided, single submitter	clinical testing
Sharon lab, Hadassah-Hebrew University Medical Center	RCV001003025	SCV001161081	pathogenic	Retinitis pigmentosa	2019-06-23	no assertion criteria provided	research