Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000704819 | SCV000833788 | pathogenic | Cone-rod dystrophy 6; Leber congenital amaurosis 1 | 2023-08-29 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 581095). Disruption of this splice site has been observed in individual(s) with Leber congenital amaurosis (PMID: 23035049). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is present in population databases (rs757823463, gnomAD 0.003%). This sequence change affects a donor splice site in intron 18 of the GUCY2D 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 GUCY2D are known to be pathogenic (PMID: 10951519, 11328726). |
Laboratory of Medical Genetics, |
RCV001729691 | SCV001976780 | pathogenic | Leber congenital amaurosis 1 | 2021-08-10 | criteria provided, single submitter | clinical testing | PVS1, PM2, PP3, PP5 |
Institute of Human Genetics, |
RCV004817943 | SCV005070188 | pathogenic | Retinal dystrophy | 2023-01-01 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV005021099 | SCV005652782 | likely pathogenic | Choroidal dystrophy, central areolar, 1; Cone-rod dystrophy 6; Leber congenital amaurosis 1; Night blindness, congenital stationary, type1i | 2024-06-22 | criteria provided, single submitter | clinical testing |