Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001035537 | SCV001198866 | uncertain significance | Early-onset Lafora body disease | 2022-11-21 | 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. 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. ClinVar contains an entry for this variant (Variation ID: 834785). This variant has not been reported in the literature in individuals affected with PRDM8-related conditions. This variant is present in population databases (rs753837771, gnomAD 0.03%). This sequence change replaces serine, which is neutral and polar, with threonine, which is neutral and polar, at codon 564 of the PRDM8 protein (p.Ser564Thr). |