ClinVar Miner

Submissions for variant NM_001211.6(BUB1B):c.2933G>T (p.Trp978Leu)

gnomAD frequency: 0.00001  dbSNP: rs1191638586
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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 RCV001946380 SCV002211540 uncertain significance Mosaic variegated aneuploidy syndrome 1 2021-12-11 criteria provided, single submitter clinical testing This sequence change replaces tryptophan, which is neutral and slightly polar, with leucine, which is neutral and non-polar, at codon 978 of the BUB1B protein (p.Trp978Leu). 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. This variant has not been reported in the literature in individuals affected with BUB1B-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.01%).
Ambry Genetics RCV004970579 SCV005546107 uncertain significance Inborn genetic diseases 2024-07-13 criteria provided, single submitter clinical testing The p.W978L variant (also known as c.2933G>T), located in coding exon 22 of the BUB1B gene, results from a G to T substitution at nucleotide position 2933. The tryptophan at codon 978 is replaced by leucine, an amino acid with similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this variant remains unclear.

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