Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV002241860 | SCV001495726 | uncertain significance | Mosaic variegated aneuploidy syndrome 1 | 2022-01-16 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (gnomAD no frequency). 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 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"). ClinVar contains an entry for this variant (Variation ID: 1008939). This variant has not been reported in the literature in individuals affected with BUB1B-related conditions. This sequence change replaces histidine, which is basic and polar, with glutamine, which is neutral and polar, at codon 968 of the BUB1B protein (p.His968Gln). |
Ambry Genetics | RCV002437043 | SCV002751878 | uncertain significance | Inborn genetic diseases | 2021-12-30 | criteria provided, single submitter | clinical testing | The p.H968Q variant (also known as c.2904C>A), located in coding exon 22 of the BUB1B gene, results from a C to A substitution at nucleotide position 2904. The histidine at codon 968 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |