Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000796233 | SCV000935738 | pathogenic | Cone-rod dystrophy 6; Leber congenital amaurosis 1 | 2020-12-31 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.His305Profs*90) in the GUCY2D gene. It is expected to result in an absent or disrupted protein product. This variant has been observed in a family affected with Leber congenital amaurosis (PMID: 26355662). For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in GUCY2D are known to be pathogenic (PMID: 10951519, 11328726). |
Revvity Omics, |
RCV003489874 | SCV004236113 | pathogenic | not provided | 2023-05-09 | criteria provided, single submitter | clinical testing |