Total submissions: 12
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000726393 | SCV000344348 | pathogenic | not provided | 2016-08-02 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000367405 | SCV000791383 | likely pathogenic | Retinitis pigmentosa 25 | 2017-05-09 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000726393 | SCV000942225 | pathogenic | not provided | 2024-01-30 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Val3096Leufs*28) in the EYS gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 49 amino acid(s) of the EYS protein. This variant is present in population databases (rs770748359, gnomAD 0.3%). This premature translational stop signal has been observed in individuals with EYS-related conditions (PMID: 24474277, 26261414, 29550188). ClinVar contains an entry for this variant (Variation ID: 289906). This variant disrupts the C-terminus of the EYS protein. Other variant(s) that disrupt this region (p.Tyr3135*, p.Asn3123Lysfs*3) have been observed in individuals with EYS-related conditions (PMID: 18976725, 20333770). This suggests that this may be a clinically significant region of the protein. For these reasons, this variant has been classified as Pathogenic. |
Blueprint Genetics | RCV001074689 | SCV001240282 | pathogenic | Retinal dystrophy | 2019-03-23 | criteria provided, single submitter | clinical testing | |
Institute of Medical Genetics and Applied Genomics, |
RCV000726393 | SCV001447697 | pathogenic | not provided | 2020-10-23 | criteria provided, single submitter | clinical testing | |
Ocular Genomics Institute, |
RCV000367405 | SCV001573555 | likely pathogenic | Retinitis pigmentosa 25 | 2021-04-08 | criteria provided, single submitter | research | The EYS c.9286_9295del 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, PP1. Based on this evidence we have classified this variant as Likely Pathogenic. |
Broad Center for Mendelian Genomics, |
RCV001003010 | SCV001950253 | pathogenic | Retinitis pigmentosa | 2021-04-01 | criteria provided, single submitter | curation | The p.Val3096LeufsTer28 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. |
Gene |
RCV000726393 | SCV002032575 | likely pathogenic | not provided | 2022-06-14 | criteria provided, single submitter | clinical testing | Frameshift variant predicted to result in protein truncation, as the last 49 amino acids are replaced with 27 different amino acids, and other loss-of-function variants have been reported downstream in the Human Gene Mutation Database (HGMD); This variant is associated with the following publications: (PMID: 31980526, 26261414, 24474277, 31589614, 32037395, 29550188) |
Fulgent Genetics, |
RCV000367405 | SCV002809834 | likely pathogenic | Retinitis pigmentosa 25 | 2022-04-07 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV000367405 | SCV004183550 | pathogenic | Retinitis pigmentosa 25 | 2023-11-25 | criteria provided, single submitter | clinical testing | |
Sharon lab, |
RCV001003010 | SCV001161065 | pathogenic | Retinitis pigmentosa | 2019-06-23 | no assertion criteria provided | research | |
Natera, |
RCV001003010 | SCV001453299 | pathogenic | Retinitis pigmentosa | 2020-09-16 | no assertion criteria provided | clinical testing |