ClinVar Miner

Submissions for variant NM_001211.6(BUB1B):c.3049G>A (p.Ala1017Thr)

gnomAD frequency: 0.00001  dbSNP: rs748723428
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001982361 SCV002221142 uncertain significance Mosaic variegated aneuploidy syndrome 1 2023-07-17 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 1017 of the BUB1B protein (p.Ala1017Thr). This variant is present in population databases (rs748723428, gnomAD 0.02%). 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: 1444351). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The threonine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
Ambry Genetics RCV003170084 SCV003912045 uncertain significance Inborn genetic diseases 2023-03-06 criteria provided, single submitter clinical testing The p.A1017T variant (also known as c.3049G>A), located in coding exon 23 of the BUB1B gene, results from a G to A substitution at nucleotide position 3049. The alanine at codon 1017 is replaced by threonine, 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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