Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV003805308 | SCV004593059 | pathogenic | Cone-rod dystrophy 6; Leber congenital amaurosis 1 | 2023-09-29 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Leu594Thrfs*42) 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). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with GUCY2D-related conditions. For these reasons, this variant has been classified as Pathogenic. |