Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001984710 | SCV002211868 | uncertain significance | Cone-rod dystrophy 6; Leber congenital amaurosis 1 | 2022-10-01 | criteria provided, single submitter | clinical testing | This variant, c.856_876dup, results in the insertion of 7 amino acid(s) of the GUCY2D protein (p.Ser286_Leu292dup), but otherwise preserves the integrity of the reading frame. 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. ClinVar contains an entry for this variant (Variation ID: 1434751). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |
| Fulgent Genetics, |
RCV005016884 | SCV005652764 | likely pathogenic | Choroidal dystrophy, central areolar, 1; Cone-rod dystrophy 6; Leber congenital amaurosis 1; Night blindness, congenital stationary, type1i | 2024-05-03 | criteria provided, single submitter | clinical testing |