Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV002234871 | SCV000954738 | uncertain significance | Mosaic variegated aneuploidy syndrome 1 | 2018-07-22 | criteria provided, single submitter | clinical testing | This variant is present in population databases (rs761776038, ExAC 0.001%). 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, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with BUB1B-related disease. This sequence change replaces threonine with alanine at codon 1042 of the BUB1B protein (p.Thr1042Ala). The threonine residue is weakly conserved and there is a small physicochemical difference between threonine and alanine. |