Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001944799 | SCV002135529 | pathogenic | Cone-rod dystrophy 6; Leber congenital amaurosis 1 | 2021-11-19 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with GUCY2D-related conditions. This sequence change creates a premature translational stop signal (p.Glu754*) in the GUCY2D gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in GUCY2D are known to be pathogenic (PMID: 10951519, 11328726). |
Fulgent Genetics, |
RCV005014735 | SCV005652772 | likely pathogenic | Choroidal dystrophy, central areolar, 1; Cone-rod dystrophy 6; Leber congenital amaurosis 1; Night blindness, congenital stationary, type1i | 2024-06-21 | criteria provided, single submitter | clinical testing |