ClinVar Miner

Submissions for variant NM_001211.6(BUB1B):c.1045del (p.Arg349fs)

dbSNP: rs770262148
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion RCV001775445 SCV002012354 pathogenic Mosaic variegated aneuploidy syndrome 1 2021-10-02 criteria provided, single submitter clinical testing Frameshift: predicted to result in a loss or disruption of normal protein function through nonsense-mediated decay (NMD) or protein truncation. Multiple pathogenic variants are reported downstream of the variant (PVS1_VS). It is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency: 0.000007954, PM2). Patient's phenotype is considered compatible with Mosaic Variegated Aneuploidy Syndrome 1 (3billion dataset, PP4). Therefore, this variant is classified as pathogenic according to the recommendation of ACMG/AMP guideline.

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