Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV002914403 | SCV003259448 | uncertain significance | Cone-rod dystrophy 13; Leber congenital amaurosis 6 | 2022-07-12 | criteria provided, single submitter | clinical testing | This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 1218 of the RPGRIP1 protein (p.Glu1218Lys). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with RPGRIP1-related conditions. 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. |
| Ambry Genetics | RCV003375716 | SCV004080111 | uncertain significance | Inborn genetic diseases | 2023-08-02 | criteria provided, single submitter | clinical testing | The c.3652G>A (p.E1218K) alteration is located in exon 23 (coding exon 23) of the RPGRIP1 gene. This alteration results from a G to A substitution at nucleotide position 3652, causing the glutamic acid (E) at amino acid position 1218 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |