Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001939208 | SCV002197518 | uncertain significance | Cone-rod dystrophy 13; Leber congenital amaurosis 6 | 2020-12-17 | 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 C0"). This variant has not been reported in the literature in individuals with RPGRIP1-related conditions. This variant is present in population databases (rs768832924, ExAC 0.02%). This sequence change replaces serine with isoleucine at codon 229 of the RPGRIP1 protein (p.Ser229Ile). The serine residue is weakly conserved and there is a large physicochemical difference between serine and isoleucine. |