Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Mendelics | RCV000989736 | SCV001140280 | pathogenic | Cone-rod dystrophy 6 | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV001858713 | SCV002235919 | pathogenic | Cone-rod dystrophy 6; Leber congenital amaurosis 1 | 2022-08-24 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Phe415Leufs*73) 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 premature translational stop signal has been observed in individual(s) with GUCY2D-related conditions (PMID: 32865313). ClinVar contains an entry for this variant (Variation ID: 803313). |