Total submissions: 11
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000724528 | SCV000227912 | pathogenic | not provided | 2015-01-20 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000176281 | SCV000798238 | likely pathogenic | Retinitis pigmentosa 25 | 2018-03-06 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000724528 | SCV001234831 | pathogenic | not provided | 2023-12-26 | criteria provided, single submitter | clinical testing | This sequence change affects a donor splice site in intron 22 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). This variant is present in population databases (rs373441420, gnomAD 0.06%). Disruption of this splice site has been observed in individuals with retinal disease (PMID: 20237254, 29550188; Invitae). ClinVar contains an entry for this variant (Variation ID: 195665). 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. |
Blueprint Genetics | RCV001074850 | SCV001240451 | pathogenic | Retinal dystrophy | 2019-07-24 | criteria provided, single submitter | clinical testing | |
Ocular Genomics Institute, |
RCV000176281 | SCV001573647 | pathogenic | Retinitis pigmentosa 25 | 2021-04-08 | criteria provided, single submitter | research | The EYS c.3443+1G>T variant was identified in an individual with retinitis pigmentosa with a presumed recessive inheritance pattern. Through a review of available evidence we were able to apply the following criteria: PVS1, PM2, PP3. Based on this evidence we have classified this variant as Pathogenic. |
Gene |
RCV000724528 | SCV001812529 | pathogenic | not provided | 2019-10-08 | criteria provided, single submitter | clinical testing | Canonical splice site variant in a gene for which loss-of-function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 29550188, 25097241, 26667666) |
Broad Center for Mendelian Genomics, |
RCV001274886 | SCV001950264 | pathogenic | Retinitis pigmentosa | 2021-04-01 | criteria provided, single submitter | curation | The c.3443+1G>T variant in EYS was identified in an individual with Retinitis pigmentosa, via a collaborative study between the Broad Institute's Center for Mendelian Genomics and the Pierce lab (https://oculargenomics.meei.harvard.edu/labs/pierce-lab/lab-members/). Through a review of available evidence we were able to apply the following criteria: PVS1, PM2, PP3. Based on this evidence we have classified this variant as Pathogenic. If you have any questions about the classification please reach out to the Pierce Lab. |
Revvity Omics, |
RCV000176281 | SCV002022259 | pathogenic | Retinitis pigmentosa 25 | 2021-06-25 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003398889 | SCV004111794 | pathogenic | EYS-related condition | 2023-03-01 | criteria provided, single submitter | clinical testing | The EYS c.3443+1G>T variant is predicted to disrupt the GT donor site and interfere with normal splicing. This variant has been reported in the homozygous and compound heterozygous states in individual with retinitis pigmentosa (Wang et al. 2014. PubMed ID: 25097241; Ge et al. 2015. PubMed ID: 26667666; Sengillo et al. 2018. PubMed ID: 29550188). This variant is reported in 0.057% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/6-65523270-C-A). Variants that disrupt the consensus splice donor site in EYS are expected to be pathogenic, and this variant has been classified as pathogenic or likely pathogenic by multiple independent submitters to the ClinVar database (https://www.ncbi.nlm.nih.gov/clinvar/variation/195665). Given the evidence, we interpret c.3443+1G>T as pathogenic. |
Baylor Genetics | RCV000176281 | SCV004192894 | pathogenic | Retinitis pigmentosa 25 | 2023-10-11 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001274886 | SCV001459436 | likely pathogenic | Retinitis pigmentosa | 2020-09-16 | no assertion criteria provided | clinical testing |