ClinVar Miner

Submissions for variant NM_001211.6(BUB1B):c.484T>C (p.Tyr162His)

gnomAD frequency: 0.00003  dbSNP: rs77520855
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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 RCV002240390 SCV001225657 uncertain significance Mosaic variegated aneuploidy syndrome 1 2023-05-01 criteria provided, single submitter clinical testing This variant is present in population databases (rs77520855, gnomAD 0.01%). 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 disruptive. ClinVar contains an entry for this variant (Variation ID: 855631). This variant has not been reported in the literature in individuals affected with BUB1B-related conditions. This sequence change replaces tyrosine, which is neutral and polar, with histidine, which is basic and polar, at codon 162 of the BUB1B protein (p.Tyr162His).
Fulgent Genetics, Fulgent Genetics RCV005012510 SCV005638061 uncertain significance Mosaic variegated aneuploidy syndrome 1; Premature chromatid separation trait; Colorectal cancer 2024-02-28 criteria provided, single submitter clinical testing

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