ClinVar Miner

Submissions for variant NM_001211.6(BUB1B):c.1067G>A (p.Cys356Tyr)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Molecular Epidemiology of Birth Defects, West China Second University Hospital, Sichuan University RCV003154788 SCV003843715 likely pathogenic Ovarian cancer 2022-01-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV004246188 SCV005017293 uncertain significance Inborn genetic diseases 2023-09-25 criteria provided, single submitter clinical testing The p.C356Y variant (also known as c.1067G>A), located in coding exon 9 of the BUB1B gene, results from a G to A substitution at nucleotide position 1067. The cysteine at codon 356 is replaced by tyrosine, an amino acid with highly dissimilar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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