ClinVar Miner

Submissions for variant NM_001211.6(BUB1B):c.2777C>T (p.Thr926Ile)

gnomAD frequency: 0.00017  dbSNP: rs74380950
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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 RCV002241696 SCV001485563 uncertain significance Mosaic variegated aneuploidy syndrome 1 2023-04-25 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. 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 isoleucine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. ClinVar contains an entry for this variant (Variation ID: 1000462). This variant has not been reported in the literature in individuals affected with BUB1B-related conditions. This variant is present in population databases (rs74380950, gnomAD 0.05%). This sequence change replaces threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 926 of the BUB1B protein (p.Thr926Ile).
Ambry Genetics RCV004036037 SCV005017257 uncertain significance Inborn genetic diseases 2022-12-03 criteria provided, single submitter clinical testing The p.T926I variant (also known as c.2777C>T), located in coding exon 21 of the BUB1B gene, results from a C to T substitution at nucleotide position 2777. The threonine at codon 926 is replaced by isoleucine, 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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