ClinVar Miner

Submissions for variant NM_001211.6(BUB1B):c.2828C>G (p.Ala943Gly)

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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 RCV003214111 SCV003912054 uncertain significance Inborn genetic diseases 2022-12-26 criteria provided, single submitter clinical testing The p.A943G variant (also known as c.2828C>G), located in coding exon 21 of the BUB1B gene, results from a C to G substitution at nucleotide position 2828. The alanine at codon 943 is replaced by glycine, 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 RCV003779776 SCV004678165 uncertain significance Mosaic variegated aneuploidy syndrome 1 2023-09-25 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with glycine, which is neutral and non-polar, at codon 943 of the BUB1B protein (p.Ala943Gly). This variant is not present in population databases (gnomAD no frequency). 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: 2497656). 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 disruptive. 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.

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