ClinVar Miner

Submissions for variant NM_001211.6(BUB1B):c.1246C>T (p.Arg416Trp)

gnomAD frequency: 0.00001  dbSNP: rs755579898
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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 RCV002241768 SCV001490879 uncertain significance Mosaic variegated aneuploidy syndrome 1 2023-12-31 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 416 of the BUB1B protein (p.Arg416Trp). This variant is present in population databases (no rsID available, gnomAD 0.004%). This variant has not been reported in the literature in individuals affected with BUB1B-related conditions. ClinVar contains an entry for this variant (Variation ID: 1004921). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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 RCV002543088 SCV003742014 uncertain significance Inborn genetic diseases 2021-08-13 criteria provided, single submitter clinical testing The c.1246C>T (p.R416W) alteration is located in exon 9 (coding exon 9) of the BUB1B gene. This alteration results from a C to T substitution at nucleotide position 1246, causing the arginine (R) at amino acid position 416 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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