Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001244861 | SCV001418111 | uncertain significance | Early-onset Lafora body disease | 2022-09-06 | criteria provided, single submitter | clinical testing | This variant is present in population databases (rs190431626, gnomAD 0.1%). This sequence change replaces threonine, which is neutral and polar, with alanine, which is neutral and non-polar, at codon 4 of the PRDM8 protein (p.Thr4Ala). This variant has not been reported in the literature in individuals affected with PRDM8-related conditions. 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: 969498). |