ClinVar Miner

Submissions for variant NM_001211.6(BUB1B):c.2752C>G (p.Leu918Val)

gnomAD frequency: 0.00001  dbSNP: rs145639700
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001753231 SCV002007170 uncertain significance not provided 2021-04-30 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek 2016); In silico analysis supports that this missense variant does not alter protein structure/function; Observed in individuals with ovarian cancer and neuroblastoma (Zhang 2015, Song 2021); This variant is associated with the following publications: (PMID: 26580448, 32546565, 29641532)
Labcorp Genetics (formerly Invitae), Labcorp RCV001868723 SCV002275183 uncertain significance Mosaic variegated aneuploidy syndrome 1 2023-09-10 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 918 of the BUB1B protein (p.Leu918Val). This variant is present in population databases (rs145639700, gnomAD 0.0009%). 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: 1318456). 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.

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