Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001068217 | SCV001233314 | pathogenic | Cone-rod dystrophy 6; Leber congenital amaurosis 1 | 2019-03-18 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gln525*) in the GUCY2D gene. It is expected to result in an absent or disrupted protein product. For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in GUCY2D are known to be pathogenic (PMID: 10951519, 11328726). This variant has not been reported in the literature in individuals with GUCY2D-related conditions. This variant is not present in population databases (ExAC no frequency). |