ClinVar Miner

Submissions for variant NM_001211.6(BUB1B):c.2801A>G (p.Gln934Arg)

gnomAD frequency: 0.00001  dbSNP: rs781299320
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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 RCV000465135 SCV000541095 uncertain significance Mosaic variegated aneuploidy syndrome 1 2016-11-29 criteria provided, single submitter clinical testing This sequence change replaces glutamine with arginine at codon 934 of the BUB1B protein (p.Gln934Arg). The glutamine residue is moderately conserved and there is a small physicochemical difference between glutamine and arginine. This variant is present in population databases (rs781299320, ExAC 0.006%) but has not been reported in the literature in individuals with a BUB1B-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). In summary, this variant is a rare missense change with uncertain impact on protein function. There is no indication that it causes disease, but the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV004965463 SCV005546228 uncertain significance Inborn genetic diseases 2024-11-19 criteria provided, single submitter clinical testing The c.2801A>G (p.Q934R) alteration is located in exon 21 (coding exon 21) of the BUB1B gene. This alteration results from a A to G substitution at nucleotide position 2801, causing the glutamine (Q) at amino acid position 934 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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