Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001213248 | SCV001384870 | uncertain significance | Early-onset Lafora body disease | 2022-10-13 | 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt PRDM8 protein function. ClinVar contains an entry for this variant (Variation ID: 943120). This variant has not been reported in the literature in individuals affected with PRDM8-related conditions. This variant is present in population databases (rs372824214, gnomAD 0.03%). This sequence change replaces glycine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 5 of the PRDM8 protein (p.Gly5Asp). |