Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001231078 | SCV001403583 | uncertain significance | Cone-rod dystrophy 6; Leber congenital amaurosis 1 | 2019-08-21 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (ExAC no frequency). This sequence change replaces asparagine with serine at codon 1063 of the GUCY2D protein (p.Asn1063Ser). The asparagine residue is highly conserved and there is a small physicochemical difference between asparagine and serine. This variant has not been reported in the literature in individuals with GUCY2D-related conditions. 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 C0"). |