ClinVar Miner

Submissions for variant NM_001211.6(BUB1B):c.2792G>A (p.Arg931Gln)

gnomAD frequency: 0.00001  dbSNP: rs751509832
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002235057 SCV000955549 uncertain significance Mosaic variegated aneuploidy syndrome 1 2022-03-19 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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: 658305). This variant has not been reported in the literature in individuals affected with BUB1B-related conditions. This variant is present in population databases (rs751509832, gnomAD 0.002%). This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 931 of the BUB1B protein (p.Arg931Gln).
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV003238237 SCV002010626 uncertain significance not provided 2021-11-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV002433979 SCV002748310 uncertain significance Inborn genetic diseases 2023-07-23 criteria provided, single submitter clinical testing The p.R931Q variant (also known as c.2792G>A), located in coding exon 21 of the BUB1B gene, results from a G to A substitution at nucleotide position 2792. The arginine at codon 931 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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