ClinVar Miner

Submissions for variant NM_001211.6(BUB1B):c.1382A>C (p.Gln461Pro)

gnomAD frequency: 0.00004  dbSNP: rs747886467
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002230307 SCV000541093 uncertain significance Mosaic variegated aneuploidy syndrome 1 2024-11-05 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with proline, which is neutral and non-polar, at codon 461 of the BUB1B protein (p.Gln461Pro). This variant is present in population databases (rs747886467, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with BUB1B-related conditions. ClinVar contains an entry for this variant (Variation ID: 403743). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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.
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001197272 SCV001367909 uncertain significance Colorectal cancer 2019-05-07 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The available evidence on this variant's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: PP3.
GeneDx RCV001753859 SCV002005952 uncertain significance not provided 2019-02-15 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV002522757 SCV003620957 uncertain significance Inborn genetic diseases 2023-02-03 criteria provided, single submitter clinical testing The p.Q461P variant (also known as c.1382A>C), located in coding exon 10 of the BUB1B gene, results from an A to C substitution at nucleotide position 1382. The glutamine at codon 461 is replaced by proline, an amino acid with 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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