Submissions for variant NM_001211.6(BUB1B):c.2679A>G (p.Arg893=)

dbSNP: rs2140911352

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001937622	SCV002133592	uncertain significance	Mosaic variegated aneuploidy syndrome 1	2021-07-01	criteria provided, single submitter	clinical testing	This sequence change affects codon 893 of the BUB1B mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the BUB1B protein. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with BUB1B-related conditions. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. 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.
Ambry Genetics	RCV004039909	SCV005017422	likely benign	Inborn genetic diseases	2024-02-20	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.