ClinVar Miner

Submissions for variant NM_001211.6(BUB1B):c.2849A>G (p.Gln950Arg)

gnomAD frequency: 0.00001  dbSNP: rs772525026
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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 RCV001434880 SCV001637695 likely benign Mosaic variegated aneuploidy syndrome 1 2022-10-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV002439015 SCV002751791 uncertain significance Inborn genetic diseases 2024-03-24 criteria provided, single submitter clinical testing The p.Q950R variant (also known as c.2849A>G), located in coding exon 21 of the BUB1B gene, results from an A to G substitution at nucleotide position 2849. The glutamine at codon 950 is replaced by arginine, an amino acid with highly similar 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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