Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV003803923 | SCV004589778 | uncertain significance | Cone-rod dystrophy 6; Leber congenital amaurosis 1 | 2023-08-14 | criteria provided, single submitter | clinical testing | 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. This variant has not been reported in the literature in individuals affected with GUCY2D-related conditions. This variant is present in population databases (rs774229738, gnomAD 0.0009%). This sequence change affects codon 878 of the GUCY2D mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the GUCY2D protein. |