ClinVar Miner

Submissions for variant NM_001211.6(BUB1B):c.1664G>C (p.Arg555Pro)

dbSNP: rs2037587746
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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 RCV002631584 SCV002962173 uncertain significance Mosaic variegated aneuploidy syndrome 1 2022-05-19 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 (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 not present in population databases (gnomAD no frequency). This sequence change replaces arginine, which is basic and polar, with proline, which is neutral and non-polar, at codon 555 of the BUB1B protein (p.Arg555Pro).
Ambry Genetics RCV002646018 SCV003670929 uncertain significance Inborn genetic diseases 2023-06-01 criteria provided, single submitter clinical testing The p.R555P variant (also known as c.1664G>C), located in coding exon 14 of the BUB1B gene, results from a G to C substitution at nucleotide position 1664. The arginine at codon 555 is replaced by proline, an amino acid with dissimilar 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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