Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV003118428 | SCV003788404 | uncertain significance | Hereditary spastic paraplegia 48 | 2022-04-18 | criteria provided, single submitter | clinical testing | This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 502 of the AP5Z1 protein (p.Ala502Val). This variant is present in population databases (rs749763325, gnomAD 0.004%). This variant has not been reported in the literature in individuals affected with AP5Z1-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The valine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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. |
| Institute of Human Genetics, |
RCV004818288 | SCV005070186 | uncertain significance | Retinal dystrophy | 2023-01-01 | no assertion criteria provided | clinical testing |