Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001857220 | SCV002238312 | pathogenic | not provided | 2022-06-13 | criteria provided, single submitter | clinical testing | Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 438201). Disruption of this splice site has been observed in individuals with retinitis pigmentosa (PMID: 28041643, 28704921, 31074760). This variant is not present in population databases (gnomAD no frequency). This sequence change affects an acceptor splice site in intron 28 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). |
NIHR Bioresource Rare Diseases, |
RCV000505007 | SCV000599157 | likely pathogenic | Retinitis pigmentosa | 2015-01-01 | no assertion criteria provided | research |