Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001883586 | SCV002145676 | uncertain significance | Hereditary spastic paraplegia | 2023-06-14 | 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 1379085). This variant has not been reported in the literature in individuals affected with USP8-related conditions. This variant is present in population databases (rs766783893, gnomAD 0.009%). This sequence change replaces proline, which is neutral and non-polar, with histidine, which is basic and polar, at codon 703 of the USP8 protein (p.Pro703His). |
Fulgent Genetics, |
RCV002490098 | SCV002780738 | uncertain significance | Pituitary dependent hypercortisolism | 2022-04-20 | criteria provided, single submitter | clinical testing |