Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV002239325 | SCV001205633 | uncertain significance | Mosaic variegated aneuploidy syndrome 1 | 2021-10-09 | 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. Experimental studies have shown that this missense change does not substantially affect BUB1B function (PMID: 27239782). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This missense change has been observed in individual(s) with colorectal cancer (PMID: 27239782). This variant is not present in population databases (ExAC no frequency). This sequence change replaces cysteine with tyrosine at codon 945 of the BUB1B protein (p.Cys945Tyr). The cysteine residue is weakly conserved and there is a large physicochemical difference between cysteine and tyrosine. |