ClinVar Miner

Submissions for variant NM_001211.6(BUB1B):c.2995C>T (p.Arg999Trp)

gnomAD frequency: 0.00005  dbSNP: rs201246315
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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 RCV002240234 SCV001217272 uncertain significance Mosaic variegated aneuploidy syndrome 1 2023-08-14 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 disruptive. ClinVar contains an entry for this variant (Variation ID: 849135). This variant has not been reported in the literature in individuals affected with BUB1B-related conditions. This variant is present in population databases (rs201246315, gnomAD 0.004%). This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 999 of the BUB1B protein (p.Arg999Trp).
Ambry Genetics RCV003160417 SCV003874749 uncertain significance Inborn genetic diseases 2022-11-18 criteria provided, single submitter clinical testing The p.R999W variant (also known as c.2995C>T), located in coding exon 23 of the BUB1B gene, results from a C to T substitution at nucleotide position 2995. The arginine at codon 999 is replaced by tryptophan, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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