ClinVar Miner

Submissions for variant NM_001211.6(BUB1B):c.1387A>T (p.Arg463Ter)

dbSNP: rs1566824608
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002233269 SCV000822708 pathogenic Mosaic variegated aneuploidy syndrome 1 2018-04-18 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in BUB1B are known to be pathogenic (PMID: 15475955, 21190457). This variant has not been reported in the literature in individuals with BUB1B-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Arg463*) in the BUB1B gene. It is expected to result in an absent or disrupted protein product.

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