ClinVar Miner

Submissions for variant NM_001211.6(BUB1B):c.676A>C (p.Thr226Pro)

gnomAD frequency: 0.00001  dbSNP: rs587778146
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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 RCV002228399 SCV001236414 uncertain significance Mosaic variegated aneuploidy syndrome 1 2023-04-08 criteria provided, single submitter clinical testing This variant is present in population databases (rs587778146, gnomAD 0.009%). 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: 133775). 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. 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. This sequence change replaces threonine, which is neutral and polar, with proline, which is neutral and non-polar, at codon 226 of the BUB1B protein (p.Thr226Pro).
ITMI RCV000120426 SCV000084578 not provided not specified 2013-09-19 no assertion provided reference population

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