Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001041393 | SCV001205006 | uncertain significance | Leber congenital amaurosis 2; Retinitis pigmentosa 20 | 2022-07-11 | criteria provided, single submitter | clinical testing | This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 90 of the RPE65 protein (p.Val90Ile). This variant is present in population databases (rs370076628, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with RPE65-related conditions. ClinVar contains an entry for this variant (Variation ID: 839599). 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. |
Ce |
RCV003886471 | SCV004703168 | uncertain significance | not provided | 2024-01-01 | criteria provided, single submitter | clinical testing | RPE65: PM2 |
Natera, |
RCV001275288 | SCV001460288 | uncertain significance | Leber congenital amaurosis | 2020-01-24 | no assertion criteria provided | clinical testing |