ClinVar Miner

Submissions for variant NM_001211.6(BUB1B):c.458A>T (p.Gln153Leu)

dbSNP: rs776363221
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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 RCV001362862 SCV001558910 uncertain significance Mosaic variegated aneuploidy syndrome 1 2024-09-22 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 153 of the BUB1B protein (p.Gln153Leu). This variant is present in population databases (rs776363221, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with BUB1B-related conditions. ClinVar contains an entry for this variant (Variation ID: 1054371). 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 tolerated. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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.
Fulgent Genetics, Fulgent Genetics RCV002493852 SCV002783470 uncertain significance Mosaic variegated aneuploidy syndrome 1; Premature chromatid separation trait; Colorectal cancer 2022-03-29 criteria provided, single submitter clinical testing

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