ClinVar Miner

Submissions for variant NM_001211.6(BUB1B):c.2827G>A (p.Ala943Thr)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002435045 SCV002750399 uncertain significance Inborn genetic diseases 2022-01-30 criteria provided, single submitter clinical testing The p.A943T variant (also known as c.2827G>A), located in coding exon 21 of the BUB1B gene, results from a G to A substitution at nucleotide position 2827. The alanine at codon 943 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV003507461 SCV004301527 uncertain significance Mosaic variegated aneuploidy syndrome 1 2023-06-24 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. 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. ClinVar contains an entry for this variant (Variation ID: 1796514). This variant has not been reported in the literature in individuals affected with BUB1B-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 943 of the BUB1B protein (p.Ala943Thr).

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