Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001999027 | SCV002283091 | uncertain significance | Cone-rod dystrophy 13; Leber congenital amaurosis 6 | 2021-10-07 | criteria provided, single submitter | clinical testing | This sequence change replaces glycine with cysteine at codon 132 of the RPGRIP1 protein (p.Gly132Cys). The glycine residue is weakly conserved and there is a large physicochemical difference between glycine and cysteine. 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 output the following: SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0". The cysteine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. This variant has not been reported in the literature in individuals affected with RPGRIP1-related conditions. This variant is not present in population databases (ExAC no frequency). |