Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000672988 | SCV000798150 | uncertain significance | Retinitis pigmentosa 25 | 2018-02-27 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000779515 | SCV000916159 | uncertain significance | Retinitis pigmentosa | 2017-10-13 | criteria provided, single submitter | clinical testing | The EYS c.7868G>A (p.Gly2623Glu) missense variant has been reported in two studies in which it is found in a total of four individuals affected with retinitis pigmentosa in a compound heterozygous state with a second missense variant, of whom three are siblings and one is a sporadic case, (Di et al. 2016; Wang et al. 2017). The variant has also been found in a heterozygous state in three unaffected members of the family with the affected siblings. The p.Gly2623Glu variant was absent from 1000 ethnically matched controls but is reported at a frequency of 0.004908 in the South Asian population of the Genome Aggregation Database. The Gly2623 residue is conserved, with the p.Gly2623Glu variant lying in a region of disulphide bond modification which may affect the formation of disulphide bonds, thereby impairing EYS protein function (Di et al. 2016). Based on the evidence, the p.Gly2623Glu variant is classified as a variant of unknown significance but suspicious for pathogenicity for the recessive form of retinitis pigmentosa. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population. |
Invitae | RCV000926124 | SCV001071684 | likely benign | not provided | 2024-01-28 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000672988 | SCV001786756 | uncertain significance | Retinitis pigmentosa 25 | 2021-07-14 | criteria provided, single submitter | clinical testing | |
Kasturba Medical College, |
RCV000672988 | SCV002587818 | uncertain significance | Retinitis pigmentosa 25 | no assertion criteria provided | research |