Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001230310 | SCV001402785 | pathogenic | Cone-rod dystrophy 6; Leber congenital amaurosis 1 | 2019-10-03 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (ExAC no frequency). 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 sequence change creates a premature translational stop signal (p.Leu309Profs*5) in the GUCY2D gene. It is expected to result in an absent or disrupted protein product. |