Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001961571 | SCV002248827 | uncertain significance | Cone-rod dystrophy 13; Leber congenital amaurosis 6 | 2021-07-31 | 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 affected with RPGRIP1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces threonine with asparagine at codon 477 of the RPGRIP1 protein (p.Thr477Asn). The threonine residue is weakly conserved and there is a small physicochemical difference between threonine and asparagine. |
| Ambry Genetics | RCV003170251 | SCV003893353 | uncertain significance | Inborn genetic diseases | 2023-01-26 | criteria provided, single submitter | clinical testing | The c.1430C>A (p.T477N) alteration is located in exon 11 (coding exon 11) of the RPGRIP1 gene. This alteration results from a C to A substitution at nucleotide position 1430, causing the threonine (T) at amino acid position 477 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |