Total submissions: 1
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV002271883 | SCV002556055 | likely pathogenic | Retinitis pigmentosa | 2022-06-21 | criteria provided, single submitter | clinical testing | Variant summary: The variant identified by MLPA or other technology involves the deletion of exon 13 in the EYS gene. A presumed nomenclature of c.(2023+1_2024-1)_(2137+1_2138-1)del has been designated for the purposes of this classification. Although exact breakpoints of this deletion are not known, it is expected to result in a large in-frame deletion change in the EYS gene, predicted as p.Gly675_Lys712del (Alamut tool), a known mechanism of disease. In addition, exon 13 includes EGF-like domain (IPR000742) that is found in the extracellular domain of membrane-bound proteins or in proteins known to be secreted (InterPro). The variant was absent in 21694 control chromosomes (gnomAD SVs, Structural Variants dataset). To our knowledge, no occurrence of c.(2023+1_2024-1)_(2137+1_2138-1)del in individuals affected with Retinitis Pigmentosa and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as likely pathogenic. |