Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001361854 | SCV001557844 | uncertain significance | Cone-rod dystrophy 6; Leber congenital amaurosis 1 | 2022-06-14 | 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 missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 1053499). This variant has not been reported in the literature in individuals affected with GUCY2D-related conditions. This variant is present in population databases (rs766418901, gnomAD 0.009%). This sequence change replaces methionine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 932 of the GUCY2D protein (p.Met932Arg). |