Submissions for variant NM_001142800.2(EYS):c.7055+1G>A

dbSNP: rs1582079626

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000817411	SCV000957968	likely pathogenic	not provided	2022-08-16	criteria provided, single submitter	clinical testing	ClinVar contains an entry for this variant (Variation ID: 660256). This variant has not been reported in the literature in individuals affected with EYS-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change affects a donor splice site in intron 35 of the EYS gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in EYS are known to be pathogenic (PMID: 18836446, 20333770). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
CeGaT Center for Human Genetics Tuebingen	RCV000817411	SCV001747468	pathogenic	not provided	2021-06-01	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV001272869	SCV001455284	likely pathogenic	Retinitis pigmentosa	2020-09-16	no assertion criteria provided	clinical testing