ClinVar Miner

Submissions for variant NM_001211.6(BUB1B):c.1520A>G (p.Glu507Gly)

gnomAD frequency: 0.00001  dbSNP: rs750377734
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV003238577 SCV002010629 uncertain significance not provided 2021-11-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001868775 SCV002309237 uncertain significance Mosaic variegated aneuploidy syndrome 1 2023-07-25 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 tolerated. ClinVar contains an entry for this variant (Variation ID: 1319272). This variant has not been reported in the literature in individuals affected with BUB1B-related conditions. This variant is present in population databases (rs750377734, gnomAD 0.009%). This sequence change replaces glutamic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 507 of the BUB1B protein (p.Glu507Gly).

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