Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001995429 | SCV002259245 | uncertain significance | Cone-rod dystrophy 6; Leber congenital amaurosis 1 | 2021-09-04 | 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 missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C65"). This variant has not been reported in the literature in individuals affected with GUCY2D-related conditions. This variant is present in population databases (rs756464199, ExAC 0.002%). This sequence change replaces leucine with proline at codon 719 of the GUCY2D protein (p.Leu719Pro). The leucine residue is highly conserved and there is a moderate physicochemical difference between leucine and proline. |