Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001227623 | SCV001399987 | uncertain significance | Cone-rod dystrophy 6; Leber congenital amaurosis 1 | 2022-08-16 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine, which is basic and polar, with glycine, which is neutral and non-polar, at codon 433 of the GUCY2D protein (p.Arg433Gly). This variant is present in population databases (rs769749617, gnomAD 0.04%). This missense change has been observed in individual(s) with clinical features of GUCY2D-related conditions (Invitae). ClinVar contains an entry for this variant (Variation ID: 955053). 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 tolerated. 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. |