Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001363785 | SCV001559911 | uncertain significance | 3-methylglutaconic aciduria, type VIIB | 2022-06-22 | criteria provided, single submitter | clinical testing | This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 588 of the CLPB protein (p.Ala588Thr). 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: 1055163). This variant has not been reported in the literature in individuals affected with CLPB-related conditions. This variant is present in population databases (rs780169796, gnomAD 0.006%), including at least one homozygous and/or hemizygous individual. |