ClinVar Miner

Submissions for variant NM_001211.6(BUB1B):c.1361A>G (p.Lys454Arg)

gnomAD frequency: 0.00004  dbSNP: rs373256667
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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 RCV002233502 SCV000762873 uncertain significance Mosaic variegated aneuploidy syndrome 1 2024-08-08 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with arginine, which is basic and polar, at codon 454 of the BUB1B protein (p.Lys454Arg). This variant is present in population databases (rs373256667, gnomAD 0.009%). 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: 533909). 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.
Fulgent Genetics, Fulgent Genetics RCV000763967 SCV000894918 uncertain significance Mosaic variegated aneuploidy syndrome 1; Premature chromatid separation trait; Carcinoma of colon 2018-10-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV003162886 SCV003874793 uncertain significance Inborn genetic diseases 2022-12-11 criteria provided, single submitter clinical testing The p.K454R variant (also known as c.1361A>G), located in coding exon 10 of the BUB1B gene, results from an A to G substitution at nucleotide position 1361. The lysine at codon 454 is replaced by arginine, 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.
Fulgent Genetics, Fulgent Genetics RCV005010622 SCV005638069 uncertain significance Mosaic variegated aneuploidy syndrome 1; Premature chromatid separation trait; Colorectal cancer 2024-05-05 criteria provided, single submitter clinical testing

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